Direct duplication of the Y chromosome with normal phenotype - incidental finding in two cases

L-C Kuan; M-T Su; P-L Kuo; T-C Kuo

doi:10.1111/j.1439-0272.2012.01320.x

Direct duplication of the Y chromosome with normal phenotype - incidental finding in two cases

Andrologia. 2013 Apr;45(2):140-4. doi: 10.1111/j.1439-0272.2012.01320.x. Epub 2012 Jun 18.

Authors

L-C Kuan¹, M-T Su, P-L Kuo, T-C Kuo

Affiliation

¹ Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, Taiwan.

PMID: 22703286
DOI: 10.1111/j.1439-0272.2012.01320.x

Abstract

Structural rearrangement in the Y chromosome is closely involved in spermatogenesis. However, several Y chromosome variants may have no deleterious effects on male reproduction. Here, we report two cases of Y chromosomal duplication from incidental findings. Their FISH analysis revealed direct duplication of large segments of short and long arms of the Y chromosome. Nearly two intact Y chromosomes were carried in these two cases with normal phenotype.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Chromosome Duplication* / genetics
Chromosomes, Human, Y* / genetics
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotype
Male
Pedigree
Phenotype
Pregnancy
Sex Chromosome Aberrations*
Young Adult