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 Batista, Yogendra M. Bhatnagar, Edmund Dowling, Wladimir Wertelecki

Research output: Contribution to journalArticle

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 - 2004
Externally publishedYes

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Y Chromosome
Cytogenetics
Mosaicism
Sex-Determining Region Y Protein
Chromosomes, Human, Y
Hirsutism
Sex Differentiation
Amenorrhea
Karyotype
Chromosome Aberrations
Cell Line
Polymerase Chain Reaction
Clinical Studies
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Tuck-Muller, C. M., Chen, H., Martínez, J. E., Shen, C. C., Li, S., Kusyk, C., ... Wertelecki, W. (2004). Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Human Genetics, 96(1), 119-129. https://doi.org/10.1007/BF00214200

Isodicentric Y chromosome : cytogenetic, molecular and clinical studies and review of the literature. / Tuck-Muller, Cathy M.; Chen, Harold; Martínez, José E.; Shen, Chuen Cheh; Li, Shibo; Kusyk, Christine; Batista, Denise; Bhatnagar, Yogendra M.; Dowling, Edmund; Wertelecki, Wladimir.

In: Human Genetics, Vol. 96, No. 1, 2004, p. 119-129.

Research output: Contribution to journalArticle

Tuck-Muller, CM, Chen, H, Martínez, JE, Shen, CC, Li, S, Kusyk, C, Batista, D, Bhatnagar, YM, Dowling, E & Wertelecki, W 2004, 'Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature', Human Genetics, vol. 96, no. 1, pp. 119-129. https://doi.org/10.1007/BF00214200
Tuck-Muller, Cathy M. ; Chen, Harold ; Martínez, José E. ; Shen, Chuen Cheh ; Li, Shibo ; Kusyk, Christine ; Batista, Denise ; Bhatnagar, Yogendra M. ; Dowling, Edmund ; Wertelecki, Wladimir. / Isodicentric Y chromosome : cytogenetic, molecular and clinical studies and review of the literature. In: Human Genetics. 2004 ; Vol. 96, No. 1. pp. 119-129.
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