Results 111 to 120 of about 22,195,386 (187)

Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review

Taiwanese Journal of Obstetrics & Gynecology
Objective: Kleefstra Syndrome (KS) is a rare genetic disorder caused by a deletion at 9q34.3. Studies showed that various heart defects are observed in 41–43% of patients and abnormal features on brain imaging in 58–63%.
Yi-Yun Tai, Chih-Ling Chen, Chen-Tu Wu, Chien-Nan Lee, Shin-Yu Lin   +4 more
doaj   +1 more source

Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis

Case Reports in Perinatal Medicine
With the advancement of next-generation sequencing (NGS), whole-exome sequencing (WES) has proven useful in diagnosing various diseases, particularly neurodevelopmental disorders, during both the prenatal and postnatal periods. In this study, we examined
Kayapınar Masum, Bütün Zafer, Akça Salık Ece, Kocagil Sinem, Susam Ezgi   +4 more
doaj   +1 more source

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency

Human Genomics
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss.
V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini, M. Priolo, M. L. Dentici, R. Milone, A. Novelli   +19 more
doaj   +1 more source

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Yanfang Zhang, Tiancai Gu, Miaoyuan Li, Jianming Peng, Chenxia Xu, Fenghua Xie, Degang Wang   +6 more
core   +1 more source

Chromosomal microarray analysis in prenatal diagnosis : ethical considerations of the Belgian approach

, 2020
: Detection of genetic aberrations in prenatal samples, obtained through amniocentesis or chorion villus biopsy, is increasingly performed using chromosomal microarray (CMA), a technique that can uncover both aneuploidies and copy number variants ...
Janssens, Katrien, Jacquemyn, Yves, Muys, Joke, Loobuyck, Patrick, Blaumeiser, Bettina   +4 more
core  

HCT116 MCM10 RNF4 Chromosomal Microarray Analysis

For CNV analyses, cells were submitted to the UMGC for DNA extraction and chromosomal microarray analysis (CMA). Microarrays were carried out in HCT116 WT, MCM10+/- Clone 8, RNF4-/- Clone 3, MCM10+/-:RNF4-/- Clone 8-4, and MCM10+/-:RNF4-/- 8-4 ...
Baxley, R (via Mendeley Data)
core   +1 more source

Chromosomal Microarray Diagnostic Yield and Copy Number Variants in a Clinically Well-Characterized Cohort with Nonsyndromic Autism Spectrum Disorder from Southern Brazil. [PDF]

Diagnostics (Basel)
de Souza Santos W, de Figueiredo BC, Mello RG, Antoniuk S, Dória GMS, Carneiro MCB, Cordeiro ML.   +6 more
europepmc   +1 more source

Chromosomal Microarray (CMA) replacing traditional Karyotyping in HA Prenatal Diagnosis Service

, 2019
Traditional karyotyping had been the standard test for prenatal diagnosis in Hong Kong since 1981. Chromosomal microarray (CMA), either performed by array comparative genomic hybridization (aCGH) or single nucleotide polymorphism (SNP) array has become ...
Kan, SYA
core  

Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism. [PDF]

Curr Issues Mol Biol
Chaval S, Tonk SS, Wilson GN, Tonk VS.
europepmc   +1 more source

Complementary Diagnostic Roles of Non-Invasive Prenatal Testing, Chromosomal Microarray Analysis, and Karyotyping in 14,011 High-Risk Pregnancies: A Retrospective Cohort Study with Combined Analyses. [PDF]

J Clin Med
Lee S, Kim SW, Lee E, Lee S, Han S.
europepmc   +1 more source