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. 1973 Mar;10(1):74–79. doi: 10.1136/jmg.10.1.74

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

Maimon M Cohen 1,*, Margaret H MacGillivray 1, Vincent J Capraro 1, Thomas A Aceto 1
PMCID: PMC1012978  PMID: 4697856

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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