10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

• Published in: American journal of medical genetics. Part A Vol. 167A; no. 11; pp. 2707 - 2713
• Main Authors: Choucair, Nancy, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Chouery, Eliane
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.11.2015; Wiley Subscription Services, Inc
• Subjects: Child; chromosomal microarray analysis; Chromosome Deletion; Chromosomes, Human, Pair 10 - genetics; critical region; genital anomalies; growth; Humans; Infant; Infant, Newborn; intellectual disability; interstitial deletion; Male; microcephaly; Microcephaly - complications; Microcephaly - genetics; monosomy 10q; Oligonucleotide Array Sequence Analysis; psychomotor retardation; Urogenital Abnormalities - complications; Urogenital Abnormalities - genetics; microcephaly; psychomotor retardation; interstitial deletion; monosomy 10q; growth; critical region; genital anomalies; intellectual disability; chromosomal microarray analysis

Distal 10q deletion syndrome is a well‐characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as well as digital anomalies. Patients with interstitial deletions involving band 10q26.1 present a phe...