22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS

• Published in: Genetic counseling Vol. 27; no. 1; pp. 43 - 49
• Main Authors: Alp, M Y, Çebi, A H, Seyhan, S, Cansu, A, Aydin, H, Ikbal, M
• Format: Journal Article
• Language: English
• Published: Switzerland Éditions Médecine et Hygiène 2016
• Subjects: Abnormalities, Multiple - genetics; Chromosome Deletion; Chromosome Disorders - genetics; Chromosomes, Human, Pair 13 - genetics; Dandy-Walker Syndrome - genetics; Hirschsprung Disease - genetics; Holoprosencephaly - genetics; Humans; Infant; Male
• ISSN: 1015-8146

Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies. Here we described a male patient with de novo interstitial deletion of 13q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM and HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q31.1-32.1.