Armandares S, Salamanca F, Cos J, Chavarria C
Ann Genet. 1977 Dec;20(4):269-72.
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.
报告了一名4岁7个月大的男孩，其生殖器模糊，有混合性性腺发育不全的组织学证据，以及45,X/46,X,dic(Yq)嵌合体。通过其典型的荧光带型和C带技术显示的两个着丝粒确定了双着丝粒Y染色体的身份。文献回顾又发现了9例45,X/46,X,dic(Yq)嵌合体病例。比较了这些病例的表型和组织学发现，并讨论了负责睾丸诱导和成熟的基因的可能定位。
