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

Abstract：

: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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Mottet N,Cabrol C,Metz JP,Toubin C,Arbez-Gindre F,Valduga M,McElreavey K,Riethmuller D,Van Maldergem L,Piard J

doi

10.1016/j.ejmg.2018.09.006

subject

Has Abstract

pub_date

2019-09-01 00:00:00

pages

103539

issue

9

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(18)30052-1

journal_volume

62

pub_type

杂志文章

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