Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature

Cathy M. Tuck-Muller, Harold Chen, José E. Martínez, Chuen Cheh Shen, Shibo Li, Christine Kusyk, Denise A.S. Batista, Yogendra M. Bhatnagar, Edmund Dowling, Wladimir Wertelecki

Research output: Contribution to journalArticlepeer-review

Abstract

Dicentrics are among the most common structural abnormalities of the human Y chromosome. Predicting the phenotypic consequences of different duplications and deletions of dicentric Y chromosomes is usually complicated by varying degrees of mosaicism (45,X cell lines), which may, in some cases, remain undetected. Molecular studies in patients with dicentric Y chromosomes have been few, and only two studies have attempted to determine the presence of SRY (the putative testis-determining factor gene). We report an 18-year-old female with short stature, amenorrhea, hirsutism, hypoplastic labia minora, and clitoromegaly who has a 45,X/46,X,idic(Y)(p11.32)/47,X,idic(Y)(p11.32),idic(Y) (p11.32) karyotype. Southern analysis using Y-specific probes (Y97, 2D6, 1F5, pY3.4) and polymerase chain reaction (PCR) analysis using primers for ZFY and SRY were positive for all loci tested, indicating that almost all of the Y chromosome was present. Our findings and an extensive review of the literature emphasize the importance of molecular analyses of abnormal Y chromosomes before any general conclusions can be reached concerning the relative effects of the Y-chromosome abnormality and mosaicism on sexual differentiation.

Original languageEnglish (US)
Pages (from-to)119-129
Number of pages11
JournalHuman genetics
Volume96
Issue number1
DOIs
StatePublished - Jul 1995
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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