American Journal of Medical Genetics Part A
This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader, such as GoogleReader, or to display this data on your own website or blog. 
Subscribe to this data using MyMedWorm.
Subscribe to this data using GoogleReader.
Subscribe to this data using Bloglines.
Subscribe to this data using MyYahoo.
Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.
This page shows you the latest items in this publication.
1352 records returned
Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery
Email this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Over the past some 160 years, the study of Down syndrome (DS) went from early efforts of differentiating it from cretinism (Séguin) to its establishment as a specific nosologic category of mental deficiency (Down) and subsequent attempts to infer its cause. DS was known to be an overwhelmingly sporadic disorder, concordant in MZ and discordant in DZ twins and associated with increased maternal reproductive age (Penrose). Beginning in the 1920s and based in part on phenotype analysis and early cytogenetic insights in Drosophilia, several clinicians (Halbertsma, Waardenburg, Bleyer, Fanconi) and the geneticist C.B. Davenpor...
Source: American Journal of Medical Genetics Part A - November 17, 2009 Category: Genetics & Stem Cells Authors: Giovanni Neri, John M. Opitz Source Type: journals
Nonsyndromic alar clefts: Report of five Brazilian patientsEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Nonsyndromic alar clefts are rare and they range from a small notch to variable size of clefts of the nasal ala. Usually they are restricted to the alar region, but other minor anomalies such as midline nasal sinuses and small midline or "northbound" clefts can be present. To date all reported cases of nonsyndromic alar clefts have been sporadic. Here we report on five new cases of isolated and nonsyndromic alar clefts. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 17, 2009 Category: Genetics & Stem Cells Authors: Antonio Richieri-Costa, Maria Leine Guion-Almeida Source Type: journals
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndromeEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen-activated protein kinase pathway. In contrast to the more common rasopathies, such as neurofibromatosis type 1 and Noonan syndrome, limited information is available on standardized cognitive testing in this cohort. Past research indicated a mean average IQ in the mild mental retardation range, with strengths in fluid reasoning (FR) and weakness in expressive language, as well as static skills over time. Here we report on standardized IQ and adaptive functioning in 18 ind...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Marni E. Axelrad, David D. Schwartz, Julie E. Fehlis, Elizabeth Hopkins, Deborah L. Stabley, Katia Sol-Church, Karen W. Gripp Source Type: journals
Absence of SIX3 mutations in patients with congenital hypopituitarismEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Carles Gaston-Massuet, Daniel Kelberman, Mehul Dattani, Juan Pedro Martinez-Barbera Source Type: journals
Recurrence risks for trisomies 13, 18, and 21Email this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
In conclusion, women who have had a previous trisomic pregnancy, particularly those under 35 years of age at the time, appear to be at an increased risk of future pregnancies being trisomic. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Elizabeth De Souza, Jane Halliday, Annabelle Chan, Carol Bower, Joan K. Morris Source Type: journals
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmiaEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in SOX2 are known to result in a spectrum of severe ocular phenotypes in humans, also typically associated with other systemic defects. Ocular phenotypes include anophthalmia/microphthalmia (A/M), optic nerve hypoplasia, ocular coloboma and other eye anomalies. We screened 51 unrelated individuals with A/M and identified SOX2 mutations in the coding region of the gene in 10 individuals. Seven of the identified mutations are novel alterations, while the remaining three individuals c...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Adele Schneider, Tanya Bardakjian, Linda M. Reis, Rebecca C. Tyler, Elena V. Semina Source Type: journals
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGHEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We report here on four de novo cases having 2.5-6.1 Mb deletions involving 15q24: one 15q23q24.2 (Patient 1) and three 15q24.1q24.2 deletions (Patients 2-4). We correlate phenotype to genotype according to molecular boundaries of these deletions. Since bilateral iris coloboma and severe ano-rectal malformation were only present in Patient 1, we could link these anomalies to haploinsufficiency of 15q23 genes. Neither hypospadias nor micropenis were present in Patient 3 bearing the smallest deletion, therefore we could define 500 kb 15q24.1 region linked to these anomalies. © 2009 Wiley-Liss, Inc. (Source: American Journal ...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Joris Andrieux, Christèle Dubourg, Marlène Rio, Tania Attie-Bitach, Elsa Delaby, Michèle Mathieu, Hubert Journel, Henri Copin, Eléonore Blondeel, Martine Doco-Fenzy, Emilie Landais, Bruno Delobel, Sylvie Odent, Sylvie Manouvrier-Hanu, Muriel Holder-Es Source Type: journals
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndromeEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high-arched palate and mild mental retardation. Although these findings may suggest a form of holoprosencephaly, no holoprosencephaly was found on MRI of the proposita. Results of genetic studies were normal including FISH for deletion of 22q11, karyotype analysis, fragile X testing, high-resolution comparative genomic hybridization and SEPT9, SHH mutation analysis. The syndrome is reminiscent of the infrequently recognized autosomal dominant Schilbach-Rott syndrome. © 2009 Wiley-Liss, Inc. (Source: American Journal of ...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Vered Shkalim, Hagit N. Baris, Gavriel Gal, Ruth Gleiss, Shlomo Calderon, Marja Wessels, Anneke Maat-Kievit, Björn Menten, Elfride De Baere, Raoul C.M. Hennekam, Anja Schirmacher, Sherri Bale, Mordechai Shohat, Patrick J. Willems Source Type: journals
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defectsEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder and is the most common cause of ambiguous genitalia in the newborn. The genes encoding 21-hydroxylase, CYP21A2, and tenascin-X (TNX), TNXB, are located within the HLA complex, in a region of high gene density termed the RCCX module. The module has multiple pseudogenes as well as tandem repeat sequences that promote misalignment during meiosis leading to complex gene rearrangements, deletions and gene conversion events. CYP21A2 mutations cause CAH, and TNX deficiency has been identified as a cause of hypermobility type E...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Wuyan Chen, Mimi S. Kim, Sujata Shanbhag, Andrew Arai, Carol VanRyzin, Nazli B. McDonnell, Deborah P. Merke Source Type: journals
Pre- and postnatal findings in a boy with duplication of the bladder and intestine: Report and reviewEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
This report of prenatal imaging with surgical and pathological correlation contributes to our detailed understanding of the spectrum of anatomy seen in caudal duplication anomaly. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Majid Alfadhel, Denise Pugash, Ashley James Robinson, James J. Murphy, Christof Senger, Kourosh Afshar, Linlea Armstrong Source Type: journals
Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palateEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, that is, individuals with CL/P, their relatives, and unrelated controls - from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S. sample was significantly elevated i...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Katherine Neiswanger, Kevin W. Chirigos, Cherise M. Klotz, Margaret E. Cooper, Kathleen M. Bardi, Carla A. Brandon, Seth M. Weinberg, Alexandre R. Vieira, Rick A. Martin, Andrew E. Czeizel, Eduardo E. Castilla, Fernando A. Poletta, Mary L. Marazita Source Type: journals
Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X-linked syndrome?Email this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Maria Leine Guion-Almeida, Siulan Vendramini-Pittoli, Maria Rita Santos Passos-Bueno, Roseli Maria Zechi-Ceide Source Type: journals
Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3Email this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Bruno Dallapiccola, Laura Bernardini, Antonio Novelli, Rita Mingarelli Source Type: journals
Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndromeEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We present a patient who was found to have areas of cerebral and cerebellar white matter hyperintensity with T2 weighted magnetic resonance (MR) imaging. To the best of our knowledge, this finding has not been previously described. While the significance and pathologic basis of this finding are unknown, its recognition is important since it has potential to be confused with imaging findings in other conditions. Moreover, it is likely to be observed in the future due to increased use of MR imaging. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Vance T. Lehman, Marc C. Patterson, Dusica Babovic-Vuksanovic, Charlotte Rydberg Source Type: journals
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasiaEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Yuka Wada, Gen Nishimura, Toshiro Nagai, Hideaki Sawai, Mayumi Yoshikata, Shinichirou Miyagawa, Takushi Hanita, Seiji Sato, Tomonobu Hasegawa, Shumpei Ishikawa, Tsutomu Ogata Source Type: journals
Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocationEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We describe two consecutive prenatal cases within a family with an inherited unbalanced (Y;12) translocation and discuss the genotype-phenotype correlation. The first fetus presented with 12qter monosomy and pseudoautosomal region 2 trisomy, while the second fetus had the alternative unbalanced state. Although the first fetus had a structural heart defect, such small imbalances might not give sonographic findings, making their prenatal diagnosis difficult. However, congenital abnormalities are expected in both unbalanced forms of the translocation, including mental retardation, which could be explained by the gene dosage v...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Irene Mademont-Soler, Carme Morales, Irene Madrigal, Ester Margarit, Jordi Bruguera, Núria Clusellas, José M. Martínez, Antoni Borrell, Aurora Sánchez, Anna Soler Source Type: journals
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literatureEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Variable clinical presentations of patients with chromosomally detected deletions in the distal long arm (q) of chromosome 4 have been reported. The lack of molecular characterization of the deletion sizes and deleted genes hinders further genotype-phenotype correlation. Using a validated oligonucleotide array comparative genomic hybridization (oaCGH) analysis, we examined two patients with apparent chromosomal deletions in the distal 4q region. In the first, oaCGH identified a 2.441 megabase (Mb) duplication and a 12.651 Mb deletion at 4q34.1 in a pregnant female who transmitted this aberration to her son. This mother has...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Michael R. Rossi, Miriam S. DiMaio, Bixia Xiang, Kangmo Lu, Hande Kaymakcalan, Margretta Seashore, Maurice J. Mahoney, Peining Li Source Type: journals
Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsyEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We present the clinical and molecular findings in a Turkish child with a de novo mosaic ring derived from chromosome 4 with multiple cell-lines; the karyotype was 46,XY,r(4)[83]/45,XY, -4[6]/47,XY,r(4),+r(4)[5]/48,XY,r(4),+r(4),+dic r(4)[1]/46,XY[5]. The patient is a 20-month-old male who was the first pregnancy of nonconsanguineous parents. The baby was delivered at term with a birth weight of 1,700 g ( (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Yasemin Soysal, Sevim Balc[inodot], Kuya[scedil] Hekimler, Thomas Liehr, Elisabeth Ewers, Jacqueline Schoumans, The-Hung Bui, Fadime Mutlu [Idot]çduygu, Nadezda Kosyakova, Necat [Idot]mirzal[inodot]o[gbreve]lu Source Type: journals
Father-to-son transmission of an X-linked gene: A case of paternal sex chromosome heterodisomyEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: R.A. Ferrier, R.B. Lowry, E.G. Lemire, G.P. Stoeber, J. Howard, J.S. Parboosingh Source Type: journals
Vertebral defects as an unusual mode of presentation of 22q11.2 deletionEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: L. Faivre, A. Masurel-Paulet, P. Callier, N. Mejean, S. Gay, M. Grimaldi, F. Mugneret, F. Huet, C. Thauvin-Robinet Source Type: journals
Rare rearrangements: A "jumping satellite" in one family and autosomal location of the SRY gene in an XX maleEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
A satellited short arm of the Y chromosome (Yps) is rare. Only one de novo case of Yps has been documented. Here we report the prenatal diagnosis of Yps in a male fetus with a karyotype, 46,XYps. Family chromosome study showed that the father and a sister had a satellited short arm of the X chromosome (Xps). A phenotypically normal male child with the Yps was delivered. This is the first familial case showing a satellite "jumping" from Xp to Yp. We propose that it resulted from a crossover within the pseudoautosomal region 1 (PAR1) on the distal Xp and Yp during paternal meiosis. In addition to the rare translocation menti...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Shu-Chin Chien, Yueh-Chun Li, Ming Ho, Pei-Ching Hsu, Ru-Hsiou Teng, Wei-De Lin, Fuu-Jen Tsai, Chyi-Chyang Lin Source Type: journals
Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotypeEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We reported on another prenatal diagnosis of a de novo mosaic sSMC in an apparently normal female fetus whose mother had conceived with assisted reproductive technology (ART) procedures. G-banding analysis of amniotic cells was performed. Spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) studies with chromosome 10-specific alphoid satellite DNA probe were used to identify the chromosome 10 origin of the sSMC. Further FISH study with telomeric sequence probes showed that the sSMC lacked a hybridization signal, suggesting that the marker could be a ring chromosome. FISH studies using BAC clone probes s...
Source: American Journal of Medical Genetics Part A - November 16, 2009 Category: Genetics & Stem Cells Authors: Pi-Lin Sung, Sheng-Ping Chang, Kuo-Chang Wen, Chia-Ming Chang, Ming-Jie Yang, Lin-Chao Chen, Kuan-Chong Chao, Chi-Ying F. Huang, Yueh-Chun Li, Chyi-Chyang Lin Source Type: journals
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2Email this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We report on three unrelated patients with the 22q11.2 microdeletion syndrome (del22q11) who have phenotypic anomalies compatible with oculo-auriculo-vertebral spectrum (OAVS). Hemifacial microsomia, unilateral microtia, hearing loss, congenital heart/aortic arch arteries defects, and feeding difficulties were present in all three patients. Additional anomalies occasionally diagnosed included coloboma of the upper eyelid, microphthalmia, cerebral malformation, palatal anomalies, neonatal hypocalcemia, developmental delay, and laryngomalacia. Several clinical features characteristic of OAVS have been described in patients w...
Source: American Journal of Medical Genetics Part A - November 4, 2009 Category: Genetics & Stem Cells Authors: M. Cristina Digilio, Donna M. McDonald-McGinn, Carrie Heike, Charles Catania, Bruno Dallapiccola, Bruno Marino, Elaine H. Zackai Source Type: journals
"Essentially" pure trisomy 3q27 [rarr] qter: Further delineation of the partial trisomy 3q phenotypeEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Partial duplication 3q is a well defined clinical entity characterized by growth retardation, cryptorchism, microcephaly, and characteristic dysmorphisms. Most patients present with large duplications or are associated with a second chromosomal imbalance, which makes the definition of the phenotype difficult. Here, we report on a 4-year and 8-month-old girl with pre- and postnatal measurements in the high normal range, developmental delay, minor dysmorphic features, and a de novo unbalanced 3/4 translocation with trisomy 3q27 [rarr] qter and monosomy of the subtelomeric region of 4p. Conventional karyotyping, FISH with pro...
Source: American Journal of Medical Genetics Part A - October 19, 2009 Category: Genetics & Stem Cells Authors: Vera Grossmann, Doris Müller, Wilfried Müller, Friedrich Fresser, Martin Erdel, Andreas R. Janecke, Johannes Zschocke, Gerd Utermann, Dieter Kotzot Source Type: journals
Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child's IDEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Although new technologies such as array genomic hybridization to diagnosis the cause of intellectual disabilities (ID) are exciting to clinicians, the value of an etiological diagnosis to the families of affected children is largely unknown. Parents of 20 children with ID, 10 with and 10 without a causal or an etiological diagnosis were interviewed in depth about the value they place on such a diagnosis. They were asked about experiences acquiring services, use of support groups, interactions with family and friends, and opinions on prenatal diagnosis. Parents were also asked whether their child's diagnostic status had inf...
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Nancy L. Makela, Patricia H. Birch, Jan M. Friedman, Carlo A. Marra Source Type: journals
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndromeEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to severe mental retardation. In addition, a number of other characteristics including supernumerary nipples, a grooved tongue or chin, chest wall malformations, and mild genital anomalies are frequently seen as well. Here we present three brothers with Simpson-Golabi-Behmel syndrome, all of which had cryptorchidism with one also having chordee of the penis, hypospadius, and penoscrotal transposition. While severe genital anomalies have been reported rarely in...
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Christopher B. Griffith, Richard C. Probert, Gail H. Vance Source Type: journals
Severe hypertriglyceridemia and recurrent pancreatitis in a girl with type Ia glycogen storage disease and type III hyperlipoproteinemiaEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: N. Vivatrat, B.A. Barshop, K.L. Jones Source Type: journals
Brainstem disconnection associated with nodular heterotopia and proatlantal arteriesEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We report on a patient with brainstem disconnection associated with periventricular nodular heterotopia and bilateral proatlantal intersegmental arteries. The patient was a girl born after 37 weeks of gestation with birth weight of 1,938 g. Polyhydroamnios and lack of swallowing movement were noted on fetal ultrasonography. No spontaneous body movement or respiration was observed after birth, whereas facial movement was preserved. She had marked generalized weakness and absent deep tendon reflexes. She remains alive and hospitalized at 4 years of age but requires mechanical ventilation and feeding through a gastrostomy tub...
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Akihisa Okumura, Tsubasa Lee, Keiko Shimojima, Ken Hisata, Hiromichi Shoji, Jun-ichi Takanashi, Toshiyuki Yamamoto, Toshiaki Shimizu, A. James Barkovich Source Type: journals
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitusEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
X-linked mental retardation (XLMR) affects 1-2/1,000 males and accounts for [sim]10% of all mental retardation (MR). We have ascertained a syndromic form of XLMR segregating within a five-generation family with seven affected males. Prominent characteristics include mild to severe MR, cortical malformation, microcephaly, seizures, thin build with distinct facial features including a long and thin face, epicanthic folds, almond-shaped eyes, upslanting palpebral fissures and micrognathia and behavioral problems. Carrier females have normal physical appearance and intelligence. This combination of features is unreported and d...
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Christèle du Souich, Athena Chou, Jingyi Yin, Tracey Oh, Tanya N. Nelson, Jane Hurlburt, Laura Arbour, Robin Friedlander, Barbara C. McGillivray, Nataliya Tyshchenko, Andreas Rump, Kenneth J. Poskitt, Michelle K. Demos, Margot I. Van Allen, Cornelius F. Source Type: journals
Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromesEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Ascensión Vera-Carbonell, Juan Antonio Bafalliu, Encarna Guillén-Navarro, Ariadna Escalona, María J. Ballesta-Martínez, Carme Fuster, Asunción Fernández, Isabel López-Expósito Source Type: journals
Conversion disorder in women with the FMR1 premutationEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We present a 60-year-old woman with FMR1 premutation who had depression, anxiety, and conversion disorder with seizures. The FMR1 premutation with its associated mRNA toxicity is postulated as an underlying neurobiological mechanism of conversion symptoms, through functional and structural neural dysconnectivity. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Andreea L. Seritan, Andrea Schneider, John M. Olichney, Maureen A. Leehey, R. Scott Akins, Randi J. Hagerman Source Type: journals
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndromeEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
This study reported an undescribed clinical feature of VWS and three novel mutations, expanding the phenotypic spectrum of VWS and mutational spectrum of IRF6. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Patra Yeetong, Charan Mahatumarat, Pichit Siriwan, Nond Rojvachiranonda, Kanya Suphapeetiporn, Vorasuk Shotelersuk Source Type: journals
The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome)Email this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Brad T. Tinkle, Howard A. Bird, Rodney Grahame, Mark Lavallee, Howard P. Levy, David Sillence Source Type: journals
Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: A suggested approach to molecular diagnosticsEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
This report, the first such analysis in North American patients, adds to the growing list of both novel pathogenic mutations associated with MWS, as well as other variants in the ZEB2 gene. In addition, we suggest an economical testing strategy. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Carol J. Saunders, Weiwei Zhao, Holly H. Ardinger Source Type: journals
A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletionEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Philippe A. Lysy, Marie Ravoet, Sandrine Wustefeld, Pierre Bernard, Marie-Cécile Nassogne, Elisabeth Wyns, Catherine Sibille Source Type: journals
Autosomal recessive diseases among the Athabaskans of the Southwestern United States: Recent advances and implications for the futureEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Genetic and linguistic data suggest that the Na-Dene, of which the Athabaskans are the largest group, are part of a later immigration into the Americas than the first Amerind immigration. Whether a second and third immigration can be separated seems unlikely but continued cross-Bering Strait exchanges may have masked what was a greater separation in the past. The movement of tribes into Siberia appears to have involved a genetic bottleneck leading to at least one disease allele shared by Eskimo/Aleuts and Navajos and a second possibly shared by the Navajo and a Siberian population, but not the same Siberian population that...
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Robert P. Erickson Source Type: journals
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopyEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
Monosomy 1p36 is the most frequent terminal deletion known in Humans. Typical craniofacial features, developmental delay/mental retardation, seizures and sensorineural defects characterize 1p36 deletion syndrome. Aicardi syndrome (AIS) is a rare genetic disorder characterized by chorioretinal lacunae, corpus callosum agenesis and infantile spasms responsible for mental retardation. By screening DNA from diagnosed AIS patients with oligonucleotide array-based comparative genomic hybridization (aCGH), we report a 1p36 monosomy in this study. There were no other deletions or duplications. Regarding clinical criteria, the pati...
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Anne-Claire Bursztejn, Myriam Bronner, Sylviane Peudenier, Marie-José Grégoire, Philippe Jonveaux, Christophe Nemos Source Type: journals
A de novo direct duplication of 16q22.1 [rarr] q23.1 in a boy with midface hypoplasia and mental retardationEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Tomoharu Tokutomi, Takahito Wada, Eiji Nakagawa, Shinji Saitoh, Masayuki Sasaki Source Type: journals
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutationEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We present a 2-year-old girl born to consanguineous parents affected by progeroid syndrome with scleroderma-like skin changes. Genetic analysis revealed the homozygous LMNA mutation 1303C>T (R435C). The same heterozygous mutation was found in the patient's parents and 11 other family members. The progeroid syndrome in our patient shares the signs of two laminopathies: progeria and restrictive dermatopathy. Two other children in the family died at the age of 2 due to a disease similar to that in the proposita. On the basis of the family pedigree we presume that these children probably had the same homozygous LMNA mutation. ...
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Agnieszka Madej-Pilarczyk, Danuta Rosi[nacute]ska-Borkowska, Joanna R[eogon]kawek, Micha[lstrok] Marchel, Ewa Szalu[sacute], Stefania Jab[lstrok]o[nacute]ska, Irena Hausmanowa-Petrusewicz Source Type: journals
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patientEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
This report emphasizes the importance of considering the fukutin founder mutation for diagnostic purposes outside of Japan. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 18, 2009 Category: Genetics & Stem Cells Authors: Hui Xiong, Shuo Wang, Kazuhiro Kobayashi, Yuwu Jiang, Jingmin Wang, Xingzhi Chang, Yun Yuan, Jieyu Liu, Tatsushi Toda, Yukio Fukuyama, Xiru Wu Source Type: journals
Book reviewEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 17, 2009 Category: Genetics & Stem Cells Authors: F. Clarke Fraser Source Type: journals
Maternal attitudes toward DNA collection for gene-environment studies: A qualitative research studyEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
To assess attitudes toward DNA collection in an epidemiological study, focus groups were assembled in September 2007 with mothers who had participated in a case-control study of birth defects. Each recruited mother previously had completed an interview and had received a mailed kit containing cytobrushes to collect buccal cells for DNA from herself, her infant, and her infant's father during the period July 2004 through July 2007. A total of 38 mothers attended six focus groups comprising: (1) non-Hispanic Black mothers of case infants who participated or (2) did not participate in DNA collection, (3) mothers of any race o...
Source: American Journal of Medical Genetics Part A - October 15, 2009 Category: Genetics & Stem Cells Authors: Mary M. Jenkins, Erika Reed-Gross, Sonja A. Rasmussen, Wanda D. Barfield, Christine E. Prue, Margaret L. Gallagher, Margaret A. Honein Source Type: journals
De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasiaEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 15, 2009 Category: Genetics & Stem Cells Authors: Nicola Brunetti-Perri, Ankita Patel, Chester W. Brown, Ronald A. Rauch, Rubina A. Heptulla Source Type: journals
Calvarial doughnut lesions and osteoporosis: A new three-generation family and reviewEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We describe a three-generation family consisting of three cases with clinical, radiological, biochemical, and histological findings consistent with this condition. All affected family members presented with childhood onset primary osteoporosis and typical CDLs or hyperostosis of the skull. In addition, the youngest family member was diagnosed with congenital glaucoma and her paternal grandmother with chronic congestive glaucoma. Glaucoma has not been previously described in this disorder. Adult patients also had recurrent cranial nerve palsies. No pathogenic mutations in the genes encoding low density lipoprotein receptor-...
Source: American Journal of Medical Genetics Part A - October 15, 2009 Category: Genetics & Stem Cells Authors: E. Jaakkola, C.M. Laine, M.K. Mäyränpää, A. Falck, J. Ignatius, O. Mäkitie Source Type: journals
X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simpleEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We report on a 14-month-old boy who presented with respiratory stridor due to tracheal calcifications. He had mild midface hypoplasia and brachytelephalangy, but lacked other features of CDPX1, such as short stature and epiphyseal stippling. Analysis of ARSE detected a deletion involving exons 7-10. His maternal grandfather harbored the same defect but lacked any clinical manifestation. These findings underscore two important points. First, the absence of stippled epiphyses on radiograms should not be considered an exclusion criteria for ARSE mutation screening in patients with other features of the disease, especially aft...
Source: American Journal of Medical Genetics Part A - October 15, 2009 Category: Genetics & Stem Cells Authors: Alberto Casarin, Francesca Rusalen, Mara Doimo, Eva Trevisson, Silvia Carraro, Maurizio Clementi, Romano Tenconi, Eugenio Baraldi, Leonardo Salviati Source Type: journals
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations - What are the minimal criteria?Email this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We describe a patient with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal development at age 30 months, who is a compound heterozygote for two novel STRA6 missense mutations. This patient's phenotype is consistent with the multisystemic malformations of PDAC syndrome, but is somewhat milder. This is the first living patient with compound heterozygous STRA6 mutations, which may explain her milder phenotype. We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long-term developmental outcomes. © 200...
Source: American Journal of Medical Genetics Part A - October 15, 2009 Category: Genetics & Stem Cells Authors: Reeval Segel, Ephrat Levy-Lahad, Francesca Pasutto, Elie Picard, Anita Rauch, Gheona Alterescu, Michael S. Schimmel Source Type: journals
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT geneEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin....
Source: American Journal of Medical Genetics Part A - October 15, 2009 Category: Genetics & Stem Cells Authors: Maria Piane, Matteo Della Monica, Gianluca Piatelli, Patrizia Lulli, Fortunato Lonardo, Luciana Chessa, Gioacchino Scarano Source Type: journals
Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patientsEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
No Abstract. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 15, 2009 Category: Genetics & Stem Cells Authors: Tiit Nikopensius, Laima Ambrozaityt[edot], Kerstin U. Ludwig, Stefanie Birnbaum, Triin Jagomägi, Mare Saag, Au[scaron]ra Matulevi[ccaron]ien[edot], Laura Linkevi[ccaron]ien[edot], Stefan Herms, Michael Knapp, Per Hoffmann, Markus M. Nöthen, Vaidutis Ku[ Source Type: journals
Weismann-Netter syndrome and mental retardation: A new patient and review of the literatureEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We describe a sporadic patient with typical WNS skeletal findings and MR. He also had postnatal growth deceleration with partially corrective pubertal growth, normal head size and normal brain structures on MRI. We review the WNS literature. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 15, 2009 Category: Genetics & Stem Cells Authors: Maarit Peippo, Leena Valanne, Marja Perhomaa, Leena Toivanen, Jaakko Ignatius Source Type: journals
Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinityEmail this article to a colleague.
Save this article to My Clippings.
Discuss or comment on this article.
We describe a 26-year-old Mexican woman, a product of consanguineous parents with clinical characteristics of SS. Our patient, also showed skeletal anomalies not previously reported that seems to be a coincidental finding. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 15, 2009 Category: Genetics & Stem Cells Authors: C.A. Venegas-Vega, M.R. Rivera-Vega, S. Cuevas-Covarrubias, J. Orozco, S. Kofman-Alfaro Source Type: journals
