Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion |
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Authors: | Nicolas Mottet Christelle Cabrol Jean-Patrick Metz Claire Toubin Francine Arbez-Gindre Mylène Valduga Kenneth McElreavey Didier Riethmuller Lionel Van Maldergem Juliette Piard |
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Affiliation: | 1. Pole Mère-femme, Service de gynécologie Obstétrique, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France;2. Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France;3. Service d''Anatomie Pathologie, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France;4. Laboratoire de génétique, Université de Nancy, France;5. Département de Biologie du Développement et cellules Souches, CNRS UMR 3738, Institut Pasteur, Paris, France |
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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. |
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Keywords: | Corresponding author. Service de gynécologie-obstétrique, Pôle Mère-Femme, CHU Jean Minjoz, Université de Franche-Comté, 3 Boulevard Fleming, 25030, Besançon, France. 19q12q13 deletion Ectodermal dysplasia Disorder of sex development Lung lobation |
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