Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.
19q12q13 deletion
Disorder of sex development
Ectodermal dysplasia
Lung lobation
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
received:
18
01
2018
revised:
04
09
2018
accepted:
10
09
2018
pubmed:
22
9
2018
medline:
21
1
2020
entrez:
22
9
2018
Statut:
ppublish
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.
Identifiants
pubmed: 30240710
pii: S1769-7212(18)30052-1
doi: 10.1016/j.ejmg.2018.09.006
pii:
doi:
Substances chimiques
Co-Repressor Proteins
0
Cytoskeletal Proteins
0
WTIP protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103539Informations de copyright
Copyright © 2018 Elsevier Masson SAS. All rights reserved.