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

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

Prenatal genetic diagnosis using microarray analysis in fetuses with congenital heart defects

2011 ◽  
Vol 32 (4) ◽  
pp. 376-382 ◽  
Author(s):  
Maximilian Schmid ◽  
Susanne Stary ◽  
Wibke Blaicher ◽  
Michaela Gollinger ◽  
Peter Husslein ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Diagnosis ◽  
Prenatal Genetic Diagnosis

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

scholarly journals Chromosomal microarray analysis in the investigation of prenatally diagnosed congenital heart disease

2020 ◽  
Vol 2 (1) ◽  
pp. 100078
Author(s):  
Hiba J. Mustafa ◽  
Katherine M. Jacobs ◽  
Katelyn M. Tessier ◽  
Shanti L. Narasimhan ◽  
Alena N. Tofte ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Microarray Analysis ◽  
Congenital Heart ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay

2016 ◽  
Vol 150 (2) ◽  
pp. 112-117 ◽  
Author(s):  
Liyang Liang ◽  
Yingjun Xie ◽  
Yiping Shen ◽  
Qibin Yin ◽  
Haiming Yuan
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Chromosomal Microarray Analysis ◽  
Limb Anomalies ◽  
Interstitial Duplication

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome.

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