Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications

Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications

Background: The etiology of spina bifida is multifactorial; the phenotype is the end result of both genetic and environmental influences. While whole exome sequencing has identified several pathogenic variants in Indian cohorts, the role of chromosomal imbalances and long contiguous stretches of hom...

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Bibliographic Details
Main Authors: Himani Pandey, Jyoti Sharma, Sourabh Kumar, Nakul Mohan, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Ashish Kumar Dubey, Prativa Choudhury, Prabudh Goel
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-05-01
Series:Journal of Indian Association of Pediatric Surgeons
Subjects:
chromosomal microarray analysis
genetic counseling
genetic heterogeneity
long contiguous stretches of homozygosity
mosaicism
neural tube defects
prenatal diagnosis
spina bifida
Online Access:https://journals.lww.com/10.4103/jiaps.jiaps_217_24
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