Comprehensive evaluation of genetic variants in fetuses with congenital heart defect using chromosomal microarray analysis and exome sequencing

2020 ◽  
Author(s):  
F. Qiao ◽  
Y. Wang ◽  
C. Zhang ◽  
R. Zhou ◽  
Y. Wu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Microarray Analysis ◽  
Congenital Heart Defect ◽  
Genetic Variants ◽  
Congenital Heart ◽  
Comprehensive Evaluation ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Heart Defect

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

2019 ◽  
Vol 39 (6) ◽  
pp. 464-470 ◽  
Author(s):  
Marguerite Hureaux ◽  
Sarah Guterman ◽  
Bérénice Hervé ◽  
Marianne Till ◽  
Sylvie Jaillard ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Congenital Heart Defect ◽  
Multicenter Study ◽  
Congenital Heart ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Heart Defect

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect

2018 ◽  
Vol 154 (1) ◽  
pp. 6-11 ◽  
Author(s):  
Beata Aleksiūnienė ◽  
Egle Preiksaitiene ◽  
Aušra Morkūnienė ◽  
Laima Ambrozaitytė ◽  
Algirdas Utkus
Keyword(s):  
Intellectual Disability ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
De Novo ◽  
Molecular Karyotyping ◽  
Pcr Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Protein Coding ◽  
Heart Defect

Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features.

scholarly journals Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e100191 ◽  
Author(s):  
Pongsathorn Chaiyasap ◽  
Supasak Kulawonganunchai ◽  
Chalurmpon Srichomthong ◽  
Sissades Tongsima ◽  
Kanya Suphapeetiporn ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Congenital Heart Defect ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Monozygotic Twins ◽  
Whole Genome ◽  
Heart Defect

Clinical aspects of prenatally detected congenital heart malformations and the yield of chromosomal microarray analysis

2016 ◽  
Vol 36 (13) ◽  
pp. 1185-1191 ◽  
Author(s):  
Rivka Sukenik-Halevy ◽  
Shay Sukenik ◽  
Arie Koifman ◽  
Yoav Alpert ◽  
Reli Hershkovitz ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Congenital Heart ◽  
Chromosomal Microarray ◽  
Clinical Aspects ◽  
Chromosomal Microarray Analysis ◽  
Congenital Heart Malformations ◽  
Heart Malformations

Yield rate of chromosomal microarray analysis in fetuses with congenital heart defects

2018 ◽  
Vol 221 ◽  
pp. 172-176 ◽  
Author(s):  
Sifa Turan ◽  
Mehmet Resit Asoglu ◽  
Rinat Gabbay Benziv ◽  
Lauren Doyle ◽  
Christopher Harman ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Yield Rate
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