Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium
Trisomy 20 has been shown to be one of the most frequent rare autosomal trisomies in patients that undergo genome-wide noninvasive prenatal testing. Here, we describe the clinical outcomes of cases that screen... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 16, 2024 Category: Molecular Biology Authors: Erica Soster, Tamara Mossfield, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy and Kelly Loggenberg Tags: Research Source Type: research
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases
Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms. The rescue of unbalanced chromosome with selection... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 8, 2024 Category: Molecular Biology Authors: Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili, Anna Carmela Trotta, Maria Rosaria Liuti, Elisabetta Malpezzi, Maria Carla Pittalis and Antoni Tags: Case Report Source Type: research
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature
Premature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most POI cases remains unidentified and is believed to be multifactorial, i... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 3, 2024 Category: Molecular Biology Authors: Zhifang Peng, Renqi Yang, Qing Liu, Binbin Chen and Panpan Long Tags: Case Report Source Type: research
Family case of Potocki-Lupski syndrome
Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide var... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 22, 2024 Category: Molecular Biology Authors: L. N. Kolbasin, T. A. Dubrovskaya, G. B. Salnikova, E. N. Solovieva, M. Yu. Donnikov, R. A. Illarionov, A. S. Glotov, L. V. Kovalenko and L. D. Belotserkovtseva Tags: Case Report Source Type: research
11p13 microduplication: a differential diagnosis of Silver –Russell syndrome?
Silver –Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms. The majori... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 14, 2024 Category: Molecular Biology Authors: Asmaa K. Amin, Jeremias Krause and Thomas Eggermann Tags: Case Report Source Type: research
Identification of chromosomal abnormalities in miscarriages by CNV-Seq
The primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential pathways or genes related to miscarriages, an... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 18, 2024 Category: Molecular Biology Authors: Yuqi Shao, Saisai Yang, Lin Cheng, Jie Duan, Jin Li, Jiawei Kang, Fang Wang, Juan Liu, Fang Zheng, Jianhong Ma and Yuanzhen Zhang Tags: Research Source Type: research
Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study
Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal d... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 30, 2024 Category: Molecular Biology Authors: Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang and Jianming Peng Tags: Research Source Type: research
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study
The contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in few prenatal fetus cohorts. Overall, specific genetic variants especiall... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 4, 2024 Category: Molecular Biology Authors: Shaobin Lin, Shanshan Shi, Jian Lu, Zhiming He, Danlun Li, Linhuan Huang, Xuan Huang, Yi Zhou and Yanmin Luo Tags: Research Source Type: research
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review
This study reported two new c... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 3, 2024 Category: Molecular Biology Authors: Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu and Fang Liu Tags: Case Report Source Type: research
Characteristics and clinical evaluation of X chromosome translocations
Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study. These characteristics are related to differential breakpoints and... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 21, 2023 Category: Molecular Biology Authors: Ning Huang, Jihui Zhou, Wan Lu, Laipeng Luo, Huizhen Yuan, Lu Pan, Shujun Ding, Bicheng Yang and Yanqiu Liu Tags: Research Source Type: research
Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses
Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these chromoso... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 6, 2023 Category: Molecular Biology Authors: Shengfang Qin, Xueyan Wang, Jin Wang, Na Xi, Mengjia Yan, Yuxia He, Mengling Ye, Zhuo Zhang and Yan Yin Tags: Research Source Type: research
Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neoc... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 30, 2023 Category: Molecular Biology Authors: Liselot van der Laan, Daniel R. Hoekman, Esther J. Wortelboer, Marcel M. A. M. Mannens and Angelique J. A. Kooper Tags: Case Report Source Type: research
Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency
Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clini... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 29, 2023 Category: Molecular Biology Authors: Shengfang Qin, Jiuzhi Zeng, Jin Wang, Mengling Ye, Qin Deng, Xueyan Wang, Zhuo Zhang, Dangying Yi, Yang Wu and Jesse Li-Ling Tags: Research Source Type: research
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement
Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majori... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 27, 2023 Category: Molecular Biology Authors: Joel Lanceta, Joseph Tripodi, Lynne Karp, Meira Shaham, Nayyara Mahmood, Vesna Najfeld, Morris Edelman and Ninette Cohen Tags: Research Source Type: research
Cytogenomic features of Richter transformation
Richter transformation (RT) is the development of aggressive lymphoma in patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). This rare disease is characterised by dismal progn... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 8, 2023 Category: Molecular Biology Authors: Renata Woroniecka, Grzegorz Rymkiewicz, Zbigniew Bystydzienski, Barbara Pienkowska-Grela, Jolanta Rygier, Natalia Malawska, Katarzyna Wojtkowska, Nikolina Goral, Katarzyna Blachnio, Marcin Chmielewski, Magdalena Bartnik-Glaska and Beata Grygalewicz Tags: Research Source Type: research
