Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature

Clin Genet. 1996 Nov;50(5):417-21. doi: 10.1111/j.1399-0004.1996.tb02399.x.

Abstract

A female infant with partial trisomy 10 mosaicism and hypomelanosis of Ito is presented. Features include a prominent forehead, hypertelorism, large dysplastic ears, prominent nasal root, a cleft lip and alveolar ridge, bilateral metatarsus adductus, and streaks and whorls of hypopigmented skin. The skin findings were diagnostic for hypomelanosis of Ito. A peripheral blood karyotype was normal. Fibroblasts from a junctional skin biopsy revealed mosaicism for partial trisomy of chromosome 10 [46, XX/47, XX, +del(10) (q11.2q23.2)]. The physical findings of this patient are compared to five published cases of complete trisomy 10 mosaicism and 94 cases of isolated trisomy 10p and trisomy 10q.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Chromosomes, Human, Pair 10*
  • Ear / abnormalities
  • Face / abnormalities
  • Female
  • Forehead / abnormalities
  • Humans
  • Hypertelorism / genetics
  • Hypertelorism / physiopathology
  • Hypopigmentation / genetics
  • Hypopigmentation / physiopathology
  • Infant
  • Mosaicism*
  • Trisomy*