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

Eur J Med Genet. 2019 Sep;62(9):103539. doi: 10.1016/j.ejmg.2018.09.006. Epub 2018 Sep 18.


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.

Keywords: 19q12q13 deletion; Disorder of sex development; Ectodermal dysplasia; Lung lobation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology
  • Chromosomes, Human, Pair 19 / genetics*
  • Co-Repressor Proteins / genetics
  • Cytoskeletal Proteins / genetics
  • Disorders of Sex Development / genetics*
  • Disorders of Sex Development / pathology
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / pathology
  • Female
  • Fetal Growth Retardation / genetics*
  • Fetal Growth Retardation / pathology
  • Gene Deletion*
  • Humans
  • Male
  • Pregnancy


  • Co-Repressor Proteins
  • Cytoskeletal Proteins
  • WTIP protein, human