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

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.

• Authors: C Boon, T Markello, C Jackson-Cook, A Pandya
• Journal: Clinical genetics (Clin Genet) Vol. 50 Issue 5 Pg. 417-21 (Nov 1996) ISSN: 0009-9163 [Print] Denmark
• PMID: 9007335 (Publication Type: Case Reports, Journal Article, Review)

Topics

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