22.5 MB deletion of 13q31.1-q34 associated with HPE, DWM, and HSCR: A case report and redefining the smallest deleted regions
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Date
2016
Journal Title
Journal ISSN
Volume Title
Publisher
Editions Medecine et Hygiene
Access Rights
info:eu-repo/semantics/closedAccess
Abstract
22.5 MB deletion ofliqil. l-qi4 associated with HPE, DWM, and HSCR: A case report and redefining the smallest deleted regions: 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, hrain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 3q32 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 I3q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HI'H, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q3l.1-32.1.
Description
Keywords
13q deletion syndrome, Dandy-Walker malformation, Hirschsprung's disease, Holoprosencephaly, genomic DNA, Apgar score, Article, case report, chromosome 13q, chromosome analysis, chromosome deletion 13, clinical article, clinodactyly, cryptorchism, cyanosis, Dandy Walker syndrome, DNA isolation, ear dysplasia, epilepsy, face dysmorphia, genetic association, genotype phenotype correlation, growth retardation, Hirschsprung disease, histology, holoprosencephaly, human, human tissue, hypernatremia, infant, intestine obstruction, limb defect, low set ear, male, Meckel diverticulum, megacolon, mental deficiency, microcephaly, micrognathia, micropenis, physical examination, seizure, short stature, chromosome 13, chromosome deletion, chromosome disorder, Dandy Walker syndrome, genetics, Hirschsprung disease, holoprosencephaly, multiple malformation syndrome, Abnormalities, Multiple, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 13, Dandy-Walker Syndrome, Hirschsprung Disease, Holoprosencephaly, Humans, Infant, Male
Journal or Series
Genetic Counseling
WoS Q Value
Scopus Q Value
N/A
Volume
27
Issue
1
