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Article Dans Une Revue European Journal of Medical Genetics Année : 2019

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion

Résumé

A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid scrotum and right cryptorchidism associated with signs of ectodermal dysplasia: scalp hypopigmentation, thick and frizzy hair, absence of eyelashes, poorly developed nails and a thin skin with prominent superficial veins. Other findings were abnormal lung lobation and facial dysmorphism.This new case of DSD with a 19q12q13 deletion expands the phenotypic spectrum associated with this chromosomal rearrangment and suggests that WTIP is a strong candidate gene involved in male sex differentiation.
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Dates et versions

hal-03488020 , version 1 (20-07-2022)

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Paternité - Pas d'utilisation commerciale

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Nicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, Claire Toubin, Francine Arbez-Gindre, et al.. Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion. European Journal of Medical Genetics, 2019, 62 (9), pp.103539. ⟨10.1016/j.ejmg.2018.09.006⟩. ⟨hal-03488020⟩
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