Human Dicentric Y Chromosomes: Case Report and Review of the Literature

AUTOR(ES)

Cohen, Maimon M.

RESUMO

A phenotypic female with histological evidence of mixed gonadal dysgenesis, and 45,X/46,X,dic(Yq) mosaicism is described. A review of the literature yielded 15 additional cases of dicentric Y chromosomes. Among the cases, a wide range of variation in phenotype, external genitalia, histology, and chromosomal findings was observed. Factors possibly contributing to such variability are discussed and include: the exact site of breakage and exchange in the Y chromosome; the timing of dicentric formation (meiotic vs mitotic); the occurrence of non-disjunction; and the presence or absence of a Y chromosome in cells of the gonadal anlage during a critical ontogenic period.

Documentos Relacionados

• Homodicentric chromosomes: a distinctive type of dicentric chromosome.
• Eosinophilic fasciitis. Case report and review of the literature.
• Orbital paraganglioma: case report and review of the literature.
• Methotrexate pneumonitis: case report and review of the literature
• Membranous lipodystrophy: case report and review of the literature