Microdeletion Syndromes This is an OPML file. It can be used to export all the MedWorm RSS feeds on this topic into your personal RSS reader (usually you have to save this file to your own computer before clicking on an Import OPML command in your own feed reader to upload the file which will then import all the feeds) or it can be used by webmasters to integrate MedWorm feeds with their own website. 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.

This page shows you the latest news and research items in this category.

Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.
CONCLUSION: We found that distinct molecular alterations of the PRODH gene result in abnormal proline levels. Newborn screening and molecular analysis are necessary to identify patients before clinical expression of metabolic disease. PMID: 23462603 [PubMed - in process] (Source: Annals of Clinical and Laboratory Science)
Source: Annals of Clinical and Laboratory Science - May 23, 2013 Category: Laboratory Medicine Authors: Jang MA, Kim BC, Ki CS, Lee SY, Kim JW, Choi TY, Lee DH, Song J, Lee YW, Park HD Tags: Ann Clin Lab Sci Source Type: research

The Prevalence of 16p12.1 Microdeletion in Patients with Left‐sided Cardiac Lesions
ConclusionIn our cohort, structural variation at 16p12.1 was not identified with increased frequency in patients with left‐sided lesions as compared with controls. (Source: Congenital Heart Disease)
Source: Congenital Heart Disease - May 20, 2013 Category: Cardiology Authors: Lisa C.A. D'Alessandro, Petra Werner, Hongbo M. Xie, Hakon Hakonarson, Peter S. White, Elizabeth Goldmuntz Tags: Original Article Source Type: research

Hematopoietic stem cell transplantation for children with primary immunodeficiency diseases: Single center experience in Jordan
Abstract HSCT can be curative for many PID. Little is known about the outcome of HSCT for patients with PID in the developing countries. We retrospectively reviewed all children with PID who received HSCT at KHCC in Jordan between August 2003 and October 2011. Twenty‐eight patients were identified. The median age was 16 months (3 months–17 yr). Patients' diagnoses were SCID (n = 16), CHS (n = 3), HLH (n = 3), WAS (n = 2), Griscelli syndrome (n = 1), ALPS (n = 1), Omenn's syndrome (n = 1), and DiGeorge syndrome (n = 1). Seventeen patients received HLA‐matched related HSCT, eight received maternal un...
Source: Pediatric Transplantation - May 20, 2013 Category: Transplant Surgery Authors: Nisreen Amayiri, Abdulhadi Al‐Zaben, Lubna Ghatasheh, Haydar Frangoul, Ayad Ahmed Hussein Tags: Original Article Source Type: research

6p21.3 Microdeletion Involving the SYNGAP1 Gene in a Patient With Intellectual Disability, Seizures, and Severe Speech Impairment
We report on a 9‐year‐old boy with an apparently de novo, 50 kb deletion, and global developmental delay, severe speech impairment, and generalized epilepsy well‐controlled by medication. There were four genes identified in this deletion, of which SYNGAP1 is considered to be responsible for speech impairment and epilepsy. We compared the clinical features of this patient with previously reported patients with 6p21.3 and patients with SYNGAP1 mutations. © 2013 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 17, 2013 Category: Genetics & Stem Cells Authors: Karin Writzl, Alida C. Knegt Tags: Clinical Report Source Type: research

6p25 Microdeletion: White Matter Abnormalities in an Adult Patient
This report highlights chromosome 6p subtelomeric deletions as a possible underlying cause for periventricular white matter abnormalities in an adult. It emphasizes the importance of genetic testing in an adult with leukoencephalopathy and congenital anomalies. © 2013 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 17, 2013 Category: Genetics & Stem Cells Authors: Hilary J. Vernon, Aida Bytyci Telegrafi, Denise Batista, Margaret Owegi, Richard Leigh Tags: Clinical Report Source Type: research

Deletions of 16p11.2 and 19p13.2 in a Family With Intellectual Disability and Generalized Epilepsy
Abstract Rare copy number variants (CNVs) have been established as an important cause of various neurodevelopmental disorders, including intellectual disability (ID) and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. Here we present two siblings and their mother who have mild ID, short stature, obesity and seizures. Array CGH studies show that each affected individual has two large, rare CNVs. The first is a deletion of chromosome 16p11.2, which has been previously associated with ID and autism. The second is a 0.9 Mb deletion of 19p13.2, which results in the deletion of a cl...
Source: American Journal of Medical Genetics Part A - May 17, 2013 Category: Genetics & Stem Cells Authors: Alexander G. Bassuk, Eileen Geraghty, Shu Wu, Saul A. Mullen, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford Tags: Clinical Report Source Type: research

Paediatric nephrology - A
Conclusions: The background of congenital solitary kidney seems to be diverse. Long-term follow-up of the patients with congenital solitary kidney for renal function and electrolyte abnormality is warranted. Especially in the female patients, investigation of internal genital organs is of special importance. (Source: Nephrology Dialysis Transplantation)
Source: Nephrology Dialysis Transplantation - May 10, 2013 Category: Urology & Nephrology Authors: Okamoto, S., Sakama, T., Nakamura, S., Niimura, F., Sahin, S., Ertan, P., Evrengul, H., Horasan, G., Dede, B., Berdeli, A., Yildiz, N., Cicek Deniz, N., Asadov, R., Yucelten, D., Alpay, H., Prado, G., Schoeneman, M., Mongia, A., Paudyal, B., Feygina, V., Tags: Abstracts Source Type: research

Microdeletion syndromes.
Abstract The recent explosion in the implementation of genome-wide microarray technology to discover rare, pathogenic genomic rearrangements in a variety of diseases has led to the discovery of numerous microdeletion syndromes. It is now clear that these microdeletions are associated with extensive phenotypic heterogeneity and incomplete penetrance. A subset of recurrent microdeletions underpin diverse phenotypes, including intellectual disability, autism, epilepsy and neuropsychiatric disorders. Recent studies highlight a role for additional low frequency variants, or 'second hits' to account for this variability....
Source: Current Opinion in Genetics and Development - May 9, 2013 Category: Genetics & Stem Cells Authors: Carvill GL, Mefford HC Tags: Curr Opin Genet Dev Source Type: research

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits [RESEARCH]
We delineated and analyzed directly oriented paralogous low-copy repeats (DP-LCRs) in the most recent version of the human haploid reference genome. The computationally defined DP-LCRs were cross-referenced with our Chromosomal Microarray Analysis (CMA) database of 25,144 patients subjected to genome-wide assays. This computationally guided approach to the empirically-derived large dataset allowed us to investigate genomic rearrangement relative frequencies and identify new loci for recurrent nonallelic homologous recombination (NAHR)-mediated copy-number variants (CNVs). The most commonly observed recurrent CNVs were NPHP...
Source: Genome Research - May 8, 2013 Category: Genetics & Stem Cells Authors: Dittwald, P., Gambin, T., Szafranski, P., Li, J., Amato, S., Divon, M. Y., Rodriguez Rojas, L. X., Elton, L. E., Scott, D. A., Schaaf, C. P., Torres-Martinez, W., Stevens, A. K., Rosenfeld, J. A., Agadi, S., Francis, D., Kang, S.-H. L., Breman, A., Lalani Tags: RESEARCH Source Type: research

A clinical and genetic overview of 18 years Neurofibromatosis type 1 molecular diagnostics in the Netherlands.
Abstract NF1 mutations are the underlying cause of Neurofibromatosis type 1 (NF1), a neuro-cardio-facio-cutaneous syndrome (NCFC). Because of the clinical overlap between NCFCs, genetic analysis of NF1 is necessary to confirm a clinical diagnosis NF1. The present report describes the clinical and genetic findings of 18 years of NF1 molecular diagnostics in the Netherlands. A pathogenic mutation was found in 59.3% (1178/1985) of the index patients, mostly de novo (73.8%). The majority of the index patients (64.3%) fulfilled the NIH NF1 criteria, a pathogenic mutation was found in 80.9% of these patients. Seventy-fou...
Source: Clinical Genetics - May 8, 2013 Category: Genetics & Stem Cells Authors: van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, van den Ouweland AM Tags: Clin Genet Source Type: research

Birth Seasonality in Prader‐Willi Syndrome Resulting From Chromosome 15 Microdeletion
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 6, 2013 Category: Genetics & Stem Cells Authors: Tadayuki Ayabe, Keiko Matsubara, Tsutomu Ogata, Atsuko Ayabe, Nobuyuki Murakami, Toshiro Nagai, Maki Fukami Tags: Research Letter Source Type: research

Relationship of Speech and Behavior Problems in DiGeorge Syndrome
(Source: AAP Grand Rounds)
Source: AAP Grand Rounds - May 1, 2013 Category: Pediatrics Authors: Hamid, R. Tags: Genetics [amp ] Birth Defects Source Type: research

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
, Michael E Talkowski, James F Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E Pyatt, Darrel J Waggoner, Lisa G Shaffer, Angela E Lin, Bert B A de Vries, Roberto Mendoza-Londono & Sarah H Elsea (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 1, 2013 Category: Genetics & Stem Cells Authors: Sureni V MullegamaJill A RosenfeldCarmen OrellanaBregje W M van BonSara HalbachElena A RepnikovaLauren BrickChumei LiLucie DupuisMonica RoselloSwaroop AradhyaD James StavropoulosKandamurugu ManickamElyse MitchellJennelle C HodgeMichael E TalkowskiJames F Tags: MBD5 gene dosage 2q23.1 autism spectrum disorder microduplication microdeletion Source Type: research

109 kb Deletion of Chromosome 4p16.3 in a Patient With Mild Phenotype of Wolf–Hirschhorn Syndrome
We report on a 2‐year‐old male with severe growth retardation, microcephaly and a characteristic facial appearance. He had no internal anomalies and his developmental milestones were mildly delayed. An array‐CGH analysis revealed loss of genomic copy numbers in the region 4p16.3, which included FGFR3, LETM1, and WHSC1. The size of the deletion was only 109 kb. The deletion included the important genes in WHSCR2. We suspect that haploinsufficiency of WHSC1 is the most probable cause of the growth deficiency, microcephaly, and characteristic facial features in WHS. © 2013 Wiley Periodicals, Inc. (Source: American Jo...
Source: American Journal of Medical Genetics Part A - May 1, 2013 Category: Genetics & Stem Cells Authors: Nobuhiko Okamoto, Kazumi Ohmachi, Shino Shimada, Keiko Shimojima, Toshiyuki Yamamoto Tags: Clinical Report Source Type: research

De Novo 19p13.2 Microdeletion Encompassing the Insulin Receptor and Resistin Genes in a Patient With Obesity and Learning Disability
In conclusion, we identified a 19p13.2 microdeletion encompassing the insulin receptor and resistin genes resulting in haploinsufficiency in an obese, but otherwise healthy patient. No firm conclusions could be drawn regarding the potential effect of the microdeletion on adipokine profile. © 2013 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 1, 2013 Category: Genetics & Stem Cells Authors: Teresia Wangensteen, Lars Retterstøl, Olaug K. Rødningen, Jøran Hjelmesæth, Pål Aukrust, Bente Halvorsen Tags: Clinical Report Source Type: research

Monoamniotic Monochorionic Twins Discordant for Noncompaction Cardiomyopathy
We examined the prenatal course and subsequent pathologic correlation since ventricular morphogenesis may depend on early muscular contraction and blood flow. The monochorionic‐monoamniotic female twin pair was initially identified since one fetus presented with increased nuchal translucency. Complete heart block was later identified in the fetus with nuchal translucency who did not survive after delivery. In contrast, the unaffected twin had normal cardiac studies both prenatally and postnatally. Pathologic analysis of the affected twin demonstrated noncompaction of the left ventricle with dysplasia of the aortic and pu...
Source: American Journal of Medical Genetics Part A - May 1, 2013 Category: Genetics & Stem Cells Authors: Dianna Ng, Yosr Bouhlal, Philip C. Ursell, Joseph T.C. Shieh Tags: Research Article Source Type: research

Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness and DNA repair deficiency
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - May 1, 2013 Category: Genetics & Stem Cells Authors: Xiaohui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John J. DiGiovanna, Deborah Tamura, Daniel Wattendorf, David Busch, Carmen C. Brewer, Christopher Zalewski, John A. Butman, Andrew J. Griffith, Paul Meltzer, Kenneth H. Kraemer Tags: Research Article Source Type: research

0.5Mb Array as a First‐Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and its Implementation in Clinical Practice
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - May 1, 2013 Category: Genetics & Stem Cells Authors: Malgorzata I. Srebniak, Lisanne Mout, Diane Van Opstal, Robert‐Jan H. Galjaard Tags: METHODS Source Type: research

Ring Chromosome 9 in a Girl With Developmental Delay and Dysmorphic Features: Case Report and Review of the Literature
In this report, we describe a female child with dysmorphic features and developmental delay. Chromosome microarray analysis followed by conventional karyotyping revealed a ring chromosome 9 with a 12 Mb deletion at 9pter‐p23 and a 540 kb deletion at 9q34.3‐qter. Four percent of the analyzed cells had monosomy 9. The patient has the features of both the Kleefstra syndrome and the chromosome 9p‐syndrome, including trigonocephaly, long philtrum, hypertelorism, and retro‐/micronagthia. The deletion of the patient overlaps with several of the proposed critical regions for the 9p deletion syndrome. © 2013 Wiley Peri...
Source: American Journal of Medical Genetics Part A - April 30, 2013 Category: Genetics & Stem Cells Authors: Else la Cour Sibbesen, Cathrine Jespersgaard, Daniela Alosi, Anne‐Marie Bisgaard, Zeynep Tümer Tags: Clinical Report Source Type: research

Expanded Prader–Willi Syndrome Due to Chromosome 15q11.2–14 Deletion: Report and a Review of Literature
We report on a male infant with de novo unbalanced t(5;15) translocation resulting in a 17.23 Mb deletion within 15q11.2–q14 and a 25.12 kb deletion in 5pter. The 15q11.2–q14 deletion encompassed the 15q11.2–q13 Prader–Willi syndrome (PWS) critical region and the recently described 15q13.3 microdeletion syndrome region while the 5pter deletion contained no RefSeq genes. From our literature review, patients with similar deletions in chromosome 15q exhibit expanded phenotype of severe developmental delay, protracted feeding problem, absent speech, central visual impairment, congenital malformations and epilepsy i...
Source: American Journal of Medical Genetics Part A - April 30, 2013 Category: Genetics & Stem Cells Authors: Anthony P.Y. Liu, Wing Fai Tang, Elizabeth T. Lau, Kelvin Y.K. Chan, Anita S.Y. Kan, Kar Yin Wong, Winnie W.Y. Tso, Khair Jalal, So Lun Lee, Christy S.K. Chau, Brian H.Y. Chung Tags: Research Article Source Type: research

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
In 2001, we reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but the identity of the mutant gene was elusive. Here, using a whole genome sequencing strategy, we identified the causative mutation of limb-girdle muscular dystrophy 1F, a heterozygous single nucleotide deletion (c.2771del) in the termination codon of transportin 3 (TNPO3). This gene is situated within the chromosomal region linked to the disease and encodes a nuclear membrane protein belonging to the importin beta family. TNPO3 transports serine/arginine-rich protein...
Source: Brain - April 24, 2013 Category: Neurology Authors: Melia, M. J., Kubota, A., Ortolano, S., Vilchez, J. J., Gamez, J., Tanji, K., Bonilla, E., Palenzuela, L., Fernandez-Cadenas, I., Pristoupilova, A., Garcia-Arumi, E., Andreu, A. L., Navarro, C., Hirano, M., Marti, R. Tags: Original Articles Source Type: research

Deletion of 3p25.3 in a Patient With Intellectual Disability and Dysmorphic Features With Further Definition of a Critical Region
We report on an 11‐year‐old girl with intellectual disability, obsessive–compulsive tendencies, hypotonia, and dysmorphic facial features in whom a 684 kb interstitial 3p25.3 deletion was characterized using array‐CGH. This deletion overlaps with interstitial 3p25 deletions reported in three recent case reports. These deletions share a 124 kb overlap region including only three RefSeq annotated genes, THUMPD3, SETD5, and LOC440944. The current patient had phenotypic similarities, including intellectual disability, hypotonia, depressed nasal bridge, and long philtrum, with previously reported patients, while she...
Source: American Journal of Medical Genetics Part A - April 23, 2013 Category: Genetics & Stem Cells Authors: Gregory Kellogg, John Sum, Robert Wallerstein Tags: Clinical Report Source Type: research

Development of the Human Aortic Arch System Captured in an Interactive Three‐Dimensional Reference Model
Abstract Variations and mutations in the human genome, such as 22q11.2 microdeletion, can increase the risk for congenital defects, including aortic arch malformations. Animal models are increasingly expanding our molecular and genetic insights into aortic arch development. However, in order to justify animal‐to‐human extrapolations, a human morphological, and molecular reference model would be of great value, but is currently lacking. Here, we present interactive three‐dimensional reconstructions of the developing human aortic arch system, supplemented with the protein distribution of developmental markers for patte...
Source: American Journal of Medical Genetics Part A - April 23, 2013 Category: Genetics & Stem Cells Authors: M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels, Antoon F.M. Moorman Tags: Research Article Source Type: research

Anal Atresia, Coloboma, Microphthalmia, and Nasal Skin Tag in a Female Patient with 3.5 Mb Deletion of 3q26 encompassing SOX2
Abstract A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low‐set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32–3q26.33 (chr. 3: 178,598,162–182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthal...
Source: American Journal of Medical Genetics Part A - April 23, 2013 Category: Genetics & Stem Cells Authors: Nabeel J.M. Salem, Maja Hempel, Katrin‐Janine Heiliger, Stuart Hosie, Thomas Meitinger, Konrad Oexle Tags: Clinical Report Source Type: research

[Corrections] Corrections
Moreno-De-Luca A, Myers SM, Challman TD, Moreno-De-Luca D, Evans DW, Ledbetter DH. Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol 2013; 12: 406–14— In figure 1A of this Personal View, the key should have read 22q11.2. Additionally, in the first sentence of the third paragraph in the “Historical perspetive” section, Arnold Gesell should not have been listed. These corrections have been made to the online version as of April 17, 2013. (Source: Lancet Neurology)
Source: Lancet Neurology - April 18, 2013 Category: Neurology Authors: The Lancet Neurology Tags: Corrections Source Type: research

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
Abstract Thrombocytopenia with absent radii (TAR) syndrome is a rare disorder combining specific skeletal abnormalities with a reduced platelet count. Rare proximal microdeletions of 1q21.1 are found in the majority of patients but are also found in unaffected parents. Recently it was shown that TAR syndrome is caused by the compound inheritance of a low-frequency noncoding SNP and a rare null allele in RBM8A, a gene encoding the exon-junction complex subunit member Y14 located in the deleted region. This finding provides new insight into the complex inheritance pattern and new clues to the molecular mechanisms und...
Source: Current Opinion in Genetics and Development - April 17, 2013 Category: Genetics & Stem Cells Authors: Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C Tags: Curr Opin Genet Dev Source Type: research

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
ella, B DuPont, A Chaubey, A E Lin & M E Talkowski (Source: Molecular Psychiatry)
Source: Molecular Psychiatry - April 16, 2013 Category: Psychiatry Authors: J C HodgeE MitchellV PillalamarriT L TolerF BartelH M KearneyY S ZouW H TanC HanscomS KirmaniR R HansonS A SkinnerR C RogersD B EvermanE BoydC TappS V MullegamaD Keelean-FullerC M PowellS H ElseaC C MortonJ F GusellaB DuPontA ChaubeyA E LinM E Talkowski Tags: chromosomal microarray MBD5 2q23.1 microdeletion syndrome next-generation sequencing regression Source Type: research

Genetic basis of hyperlysinemia
Conclusions: Hyperlysinemia is caused by mutations in AASS. As hyperlysinemia is generally considered a benign metabolic variant, the more severe neurological disease course in two patients with a contiguous deletion syndrome may be explained by the additional loss of PTPRZ1. Our findings illustrate the importance of detailed biochemical and genetic studies in any hyperlysinemia patient. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 9, 2013 Category: Internal Medicine Authors: Sander HoutenHeleen te BrinkeSimone DenisJos RuiterAlida KnegtJohannis de KlerkPersephone Augoustides-SavvopoulouJohannes HäberleMatthias BaumgartnerTurgay Co¿kunJohannes ZschockeJörn Oliver SassBwee Tien Poll-TheRonald WandersMarinus Duran Source Type: research

Bernard‐Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion
ConclusionsOur cases illustrate that a suspicion of 22q11.2 deletion is warranted in pediatric BSS patients with a mutation in the GPIbβ gene, even without remarkable symptoms. (Source: Pediatrics International)
Source: Pediatrics International - April 8, 2013 Category: Pediatrics Authors: Shinji Kunishima, Tsuyoshi Imai, Ryoji Kobayashi, Motohiro Kato, Seishi Ogawa, Hidehiko Saito Tags: Clinical Investigations Source Type: research

Radial Microcolumnar Cortical Architecture: Maturational Arrest or Cortical Dysplasia?
Abstract: The fetal neocortical plate, from initiation of radial migration at 5 weeks' gestation until midgestation, exhibits radial microcolumnar architecture. Horizontal histologic layering or lamination becomes superimposed in the second half of gestation, although residua of the columnar pattern persist postnatally, particularly where the cortex bends: at the crowns of gyri and in the depths of sulci. Columnar architecture of the cortical plate in the first half of gestation mostly results from radial migration of neuroblasts, but the Cajal-Retzius neurons and GABAergic neuroblasts from tangential migration regulate a ...
Source: Pediatric Neurology - April 1, 2013 Category: Neurology Authors: Harvey B. Sarnat, Laura Flores-Sarnat Tags: Review Articles Source Type: research

Oculo‐Auriculo‐Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement
Abstract An array‐CGH on 19‐year‐old male showed a proximal 1.11 Mb duplication and a distal 1.7 Mb deletion of 22q11.2 regions flanking the Velocardiofacial/DiGeorge syndrome region that remained intact. FISH analyses revealed both abnormalities to be on the same homolog 22. This double rearrangement lead to the co‐existence of two syndromes: Cat eye and distal 22q11.2 microdeletion syndromes with a rare associated phenotype of oculo‐auriculo‐vertebral spectrum (OAVS). A review of the literature indicates that this is the second report of a proximal duplication and the fifth report of a distal deletion and...
Source: American Journal of Medical Genetics Part A - March 29, 2013 Category: Genetics & Stem Cells Authors: Erin E. Torti, Stephen R. Braddock, Kristen Bernreuter, Jacqueline R. Batanian Tags: Clinical Report Source Type: research

Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features.
We report on a 21-year-old Thai woman presenting with mental retardation, developmental delays, selective mutism, distinctive facial features, sensorineural hearing loss, single right kidney, uterine didelphys and obesity. A longitudinal clinical course beginning in childhood revealed excessive weight gain, poor language skills and poor school performance. Chronic kidney disease stage 4, with elevated blood pressure, was first noted in adulthood. Array comparative genomic hybridization detected a copy loss at 20p13 co-existing with a copy gain at 20p13-20p11.22. A conventional cytogenetic study revealed the complex structu...
Source: European Journal of Medical Genetics - March 29, 2013 Category: Genetics & Stem Cells Authors: Trachoo O, Assanatham M, Jinawath N, Nongnuch A Tags: Eur J Med Genet Source Type: research

Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion.
Abstract A female patient, 20 years of age, is reported with a history characterized by developmental and psychomotor delay, and during grammar-school period increasing learning problems, ritualistic behaviours and social withdrawal. Subsequently, challenging and autistic-like behaviours became prominent. The patient showed mild facial dysmorphisms, long thin fingers with bilateral mild short V metacarpals, and hyperlaxity of the joints. Neuropsychiatric examination disclosed obsessive, ritualistic behaviours and vague ideas of reference. Neuropsychological assessment demonstrated mild intellectual disability, ment...
Source: European Journal of Medical Genetics - March 29, 2013 Category: Genetics & Stem Cells Authors: Verhoeven WM, Egger JI, Goffin L, van Zutven LJ, Mancini GM Tags: Eur J Med Genet Source Type: research

Clinical characterization of DISP1 haploinsufficiency: A case report.
We report here a patient with a 183-kb deletion in chromosome 1q41, representing the smallest deletion identified among cases of the 1q41q42 microdeletion syndrome. The involved genes are DISP1 and TLR5. This patient developed seizures and developmental delay but showed no facial dysmorphism or organ defects. This deleted region was inherited from a phenotypically normal parent. This case may help define the role of the DISP1 haploinsufficiency in phenotype and support the suggestion that DISP1 mutation or deletion may reveal incomplete penetrance. PMID: 23542665 [PubMed - as supplied by publisher] (Source: European Jo...
Source: European Journal of Medical Genetics - March 28, 2013 Category: Genetics & Stem Cells Authors: Jun KR, Hur YJ, Lee JN, Kim HR, Shin JH, Oh SH, Lee JY, Seo EJ Tags: Eur J Med Genet Source Type: research

Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect
This report supports the evidence that deregulation of an intact SOX9 coding region is a cause of or associated with isolated PRS, and provides further evidence that CMA in the clinical setting is a powerful tool in detecting microdeletions in gene “desert” regions that have pathogenic position effect on specific genes. © 2013 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 26, 2013 Category: Genetics & Stem Cells Authors: Ina E. Amarillo, Katrina M. Dipple, Fabiola Quintero‐Rivera Tags: Clinical Report Source Type: research

Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: The importance of detecting low‐level uniparental disomy
We report on a patient with early onset pediatric bilateral pheochromocytomas caused by mosaic chromosome 11p15 paternal uniparental isodisomy (UPD). Hemihyperplasia of the arm was diagnosed in a 4‐month‐old female and clinical methylation testing for 11p15 in the blood was normal, with a reported detection threshold for mosaicism of 20%. She was subsequently diagnosed at 18 months with bilateral pheochromocytomas. Single‐nucleotide polymorphism (SNP) array analysis of pheochromocytoma tissue demonstrated mosaic deletions of 8p12pter, 21q21.1qter, 22q11.23qter; commonly seen in pheochromocytomas. In addition, mosaic ...
Source: American Journal of Medical Genetics Part A - March 26, 2013 Category: Genetics & Stem Cells Authors: Jennifer M. Kalish, Laura K. Conlin, Sogol Mostoufi‐Moab, Alisha B. Wilkens, Surabhi Mulchandani, Kristin Zelley, Megan Kowalski, Tricia R. Bhatti, Pierre Russo, Peter Mattei, William G. Mackenzie, Virginia LiVolsi, Kim E. Nichols, Jaclyn A. Biegel, Nan Tags: Research Article Source Type: research

Aspect of faulty brain development in 22q11 deletion syndrome shown
Abstract No.Abstract (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 20, 2013 Category: Genetics & Stem Cells Tags: the AJMG SEQUENCE Source Type: research

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay
& Christian P Schaaf (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 13, 2013 Category: Genetics & Stem Cells Authors: Jens WitschPrzemyslaw SzafranskiChun-An ChenLaDonna ImmkenGayle Simpson PatelPatricia HixsonSau Wai CheungPawel StankiewiczChristian P Schaaf Tags: 15q26.3 IGF1 receptor microdeletion neuropsychiatric disease Source Type: research

Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions
Abstract Interstitial deletions of 18q lead to a number of phenotypic features, including multiple types of foot deformities. Many of these associated phenotypes have had their critical regions narrowly defined. Here we report on three patients with small overlapping deletions of chromosome 18q determined by microarray analysis (chr18:72493281–73512553 hg19 coordinates). All of the patients have congenital vertical talus (CVT). Based on these findings and previous reports in the literature and databases, we narrow the critical region for CVT to a minimum of five genes (ZNF407, ZADH2, TSHZ1, C18orf62, and ZNF516), and pro...
Source: American Journal of Medical Genetics Part A - March 13, 2013 Category: Genetics & Stem Cells Authors: Paul R. Mark, Brian C. Radlinski, Nathalie Core, Alan Fryer, Edwin P. Kirk, Chad R. Haldeman‐Englert Tags: Clinical Report Source Type: research

Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A
This study contributes additional information for the newly identified 19p13 deletion syndrome and clarifies the clinical roles of genes in the involved region. This case of apparent germline mosaicism represents the only known family in the cohort of 1,800 patients analyzed by our group. © 2013 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 13, 2013 Category: Genetics & Stem Cells Authors: Manjunath Nimmakayalu, V. Kim Horton, Ben Darbro, Shivanand R. Patil, Hamza Alsayouf, Kim Keppler‐Noreuil, Oleg A. Shchelochkov Tags: Clinical Report Source Type: research

An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma
We report on a pedigree with a pair of brothers each with minor anomalies, developmental delay, and autistic‐symptoms who share an unbalanced translocation (not detectable by karyotype). The unbalanced translocation involves a 7.1 Mb loss of the terminal portion of 10q, and a 4.2 Mb gain of 11q. One of the brothers also developed a cerebellar juvenile pilocytic astrocytoma. The father was found to be a balanced carrier and the couple had a previous miscarriage. We demonstrate that the breakpoint for the triplicated region from chromosome 11 is adjacent to two IgLON genes, namely Neurotrimin (NTM) and Opioid Binding P...
Source: American Journal of Medical Genetics Part A - March 12, 2013 Category: Genetics & Stem Cells Authors: Hassan M. Minhas, Matthew F. Pescosolido, Matthew Schwede, Justyna Piasecka, John Gaitanis, Umadevi Tantravahi, Eric M. Morrow Tags: Research Article Source Type: research

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome
In this report we present a 2½‐year‐old African American male with features highly suggestive of KBG syndrome. Genomic microarray identified an intragenic 154 kb deletion at 16q24.3 within ANKRD11. This child's mother was mosaic for the same deletion (present in approximately 38% of cells) and exhibited a milder phenotype including macrodontia, short stature and brachydactyly. This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome...
Source: American Journal of Medical Genetics Part A - March 12, 2013 Category: Genetics & Stem Cells Authors: Mohamed Khalifa, Jennifer Stein, Lance Grau, Valery Nelson, Jeanne Meck, Swaroop Aradhya, John Duby Tags: Clinical Report Source Type: research

A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity
We report on a female patient with a de novo reciprocal translocation between chromosomes 2 and 5. Chromosomal microarray testing revealed a cryptic 896 kb deletion that included MBD5. Although clinical manifestations of this patient are compatible with those of patients with 2q23.1 deletion syndrome, a focal pachygyria revealed by brain magnetic resonance imaging has never been observed in the previously reported cases. Obesity caused by hyperphagia was observed in our patient and 28% of the previously reported patients with the 2q23.1 deletion syndrome. For better medical management, appropriate dietary guidance agains...
Source: American Journal of Medical Genetics Part A - March 12, 2013 Category: Genetics & Stem Cells Authors: Minobu Shichiji, Yasushi Ito, Keiko Shimojima, Hidetsugu Nakamu, Hirokazu Oguni, Makiko Osawa, Toshiyuki Yamamoto Tags: Clinical Report Source Type: research

A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15‐p16.1 microdeletion syndrome
We report here on an 11‐year‐old female showing clinical features consistent with the syndrome and carrying a de novo 0.45 Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein‐coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non‐coding RNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. ...
Source: American Journal of Medical Genetics Part A - March 12, 2013 Category: Genetics & Stem Cells Authors: Miroslava Hancarova, Martina Simandlova, Jana Drabova, Katrin Mannik, Ants Kurg, Zdenek Sedlacek Tags: Clinical Report Source Type: research

6p.24 microdeletion involving TFAP2A without classic features of branchio‐oculo‐facial syndrome
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 12, 2013 Category: Genetics & Stem Cells Authors: Shannon K. LeBlanc, Sui Yu, Christopher P. Barnett Tags: Research Letter Source Type: research

The MEF2C gene‐microdeletion 5q14.3 dilemma and three axioms for molecular syndromology
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 12, 2013 Category: Genetics & Stem Cells Authors: Golder N. Wilson Tags: Correspondence Source Type: research

Interstitial duplication of 2q32.1–q33.3 in a patient with epilepsy, developmental delay, and autistic behavior
In this study, we identified a duplication of 2q32.1–q33.3 in a patient with psychomotor developmental delay, epilepsy, and autistic behavior. The duplicated region of this patient was reciprocal to the 2q32–q33 deletion syndrome. Chromosomal microarray testing confirmed the 19.5 Mb of duplication that includes over 100 genes, some of which could have functional relevance to the neurological features of this patient. The SATB homeobox 2 gene (SATB2)—the primary gene responsible for the 2q32–q33 deletion syndrome—may be one of them, because of its expression in the cortical projection neurons of the developing b...
Source: American Journal of Medical Genetics Part A - March 5, 2013 Category: Genetics & Stem Cells Authors: Daisuke Usui, Shino Shimada, Keiko Shimojima, Midori Sugawara, Hajime Kawasaki, Hideo Shigematu, Yukitoshi Takahashi, Yushi Inoue, Katsumi Imai, Toshiyuki Yamamoto Tags: Clinical Report Source Type: research

A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome
Abstract KBG syndrome is a rare autosomal dominant congenital syndrome comprising developmental delay with various neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism, and skeletal anomalies. ANKRD11 was recently identified as the gene responsible for this syndrome. To date, there have been only five KBG syndrome families described, each carrying a single base substitution or a 1‐ to 14‐bp deletion of this gene. Here, we present a patient with clinically confirmed KBG syndrome carrying a de novo 690‐kb deletion at 16q24.3 involving part of ANKRD11. He had characteri...
Source: American Journal of Medical Genetics Part A - March 5, 2013 Category: Genetics & Stem Cells Authors: Satoko Miyatake, Akira Murakami, Nobuhiko Okamoto, Michiko Sakamoto, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto Tags: Clinical Report Source Type: research

The low frequency of Y chromosome microdeletions in subfertile males in a Sinhalese population of Sri Lanka
Conclusions: These results suggest a much lower Y chromosome microdeletion frequency than previously thought, even among a strictly selected group of sub-fertile males in Sri Lanka. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Tithila Kalum WettasingheRohan W JayasekaraVajira H. W. Dissanayake Source Type: research

Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis
ConclusionsIn the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. (Source: Ultrasound in Obstetrics and Gynecology)
Source: Ultrasound in Obstetrics and Gynecology - March 4, 2013 Category: Radiology Authors: I. Mademont‐Soler, C. Morales, A. Soler, J. M. MartÍnez‐Crespo, Y. Shen, E. Margarit, N. Clusellas, M. Obón, B.‐L. Wu, A. Sánchez Tags: Original Paper Source Type: research