Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations

Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations

Objective: Congenital Diaphragmatic Hernia (CDH) results from defects in the developing diaphragm and is characterized by herniation of abdominal contents into the thoracic cavity. Notably, CDH is linked to elevated morbidity and mortality rates due to its association with pulmonary hypoplasia. Copy...

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Bibliographic Details
Main Authors: G. Somayyeh Heidargholizadeh, Cagri Gulec, Gulnihal Bulut, Ibrahim Halil Kalelioglu, Recep Has, Tugba Sarac Sivrikoz, Tugba Kalayci, Bilge Ozsait Selcuk, Birsen Karaman
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Cat-eye syndrome
Chromosomal anomaly
Congenital diaphragmatic hernia
15q11.2 microdeletion
17q12 microdeletion
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455925001342
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