45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. Case report and review of the literature.

Abstract

A 4 year 7 month-old boy with ambiguous genitalia, histological evidence of mixed gonadal dysgenesis, and 45,X/46,X,dic(Yq) mosaicism is reported. The identity of the dicentric Y chromosome was stablished by its typical fluorescent banding patterns and the presence of two centromeres demonstrated by C-band technique. A review of the literature yielded nine additional cases of mosaic 45,X/46,X,dic(Yq). Phenotypical and histological findings among these cases were compared, and the possible localization of the genes responsible for testicle induction and maturation is discussed.

• Authors: S Armandares, F Salamanca, J Cos, C Chavarria
• Journal: Annales de genetique (Ann Genet) Vol. 20 Issue 4 Pg. 269-72 (Dec 1977) ISSN: 0003-3995 [Print] Netherlands
• PMID: 305755 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Female
• Humans
• Karyotyping
• Male
• Mosaicism
• Sex Chromatin
• Sex Chromosomes
• Turner Syndrome (diagnosis)
• X Chromosome