Article
Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.
Clinical genetics - 1 Nov 2024
Previdi Anaïk, Jordan Pénélope, Egloff Charles, Coussement Aurélie, Ahmed-Eli Samira, Tudal Laure, Bienvenu Thierry, Picone Olivier, Dupont Jean-Michel
Abstract excerpt
15q24.1 microdeletion syndrome is a recently described condition often resulting from non-allelic homologous recombination (NAHR). Typical clinical features include pre and post-natal growth retardation, facial dysmorphism, developmental delay and intellectual disability. Nonspecific urogenital, skeletal, and digit abnormalities may be present, although other congenital malformations are less frequent....
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