J H Andresen1, S Aftimos1, E Doherty1, D R Love1, M Battin1. 1. Newborn Services, National Women's Health, Auckland City Hospital, Park Road Grafton, Private Bag 92 024, Auckland, New ZealandNorthern Regional Genetic Service, Auckland City Hospital, Park Road Grafton, Private Bag 92 024, Auckland, New ZealandLabPlus, Auckland City Hospital, PO Box 110031, Auckland, New Zealand.
Abstract
UNLABELLED: 13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the level of the deletion. We present a male neonate with ambiguous genitalia and IUGR with a 13q33.2 deletion, and a paternal balanced translocation. Microarray analysis found the genes involved to be on chromosome 13 in the region 102989254bp-109214509bp. This deletion encompasses the EFNB2 gene, which has been implicated in genital malformations in 13q deletion cases. CONCLUSIONS: We find a link between haploinsufficiency of the EFNB2 gene and the presence of ambiguous genitalia and hypospadia in patients with a 13q.33 deletion. This work emphasizes the importance of early diagnosis of this condition due to the link with mental retardation and the need for follow up and management.
UNLABELLED: 13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the level of the deletion. We present a male neonate with ambiguous genitalia and IUGR with a 13q33.2 deletion, and a paternal balanced translocation. Microarray analysis found the genes involved to be on chromosome 13 in the region 102989254bp-109214509bp. This deletion encompasses the EFNB2 gene, which has been implicated in genital malformations in 13q deletion cases. CONCLUSIONS: We find a link between haploinsufficiency of the EFNB2 gene and the presence of ambiguous genitalia and hypospadia in patients with a 13q.33 deletion. This work emphasizes the importance of early diagnosis of this condition due to the link with mental retardation and the need for follow up and management.
Authors: Jess F Peterson; Gabrielle C Geddes; Donald G Basel; Dana Schippman; John W Grignon; Peter vanTuinen; Ulrike P Kappes Journal: J Pediatr Genet Date: 2017-08-14
Authors: Fernanda T Bellucco; Hélio Rodrigues de Oliveira-Júnior; Roberta Santos Guilherme; Silvia Bragagnolo; Ana B Alvarez Perez; Vera Ayres Meloni; Maria I Melaragno Journal: Mol Syndromol Date: 2019-03-06