Abstract

Structural abnormalities include various types of translocations, inversions, deletions, duplications and isochromosomes. Structural abnormalities of the Y chromosome are estimated to affect less than 1% of the newborn male population and are particularly hazardous for male reproductive function. The objective of this study was to characterize a group of patients with structural abnormalities of the Y chromosome. All patients who visited our laboratory between 2007 and 2010 underwent cytogenetic investigations. Among these, we detected 26 patients with structural abnormalities of the Y chromosome. To confirm the structural Y chromosome alterations, we used special bandings, FISH and multiplex PCR to detect Y chromosome microdeletions. Of the 26 patients presented here, 11 had an isodicentric Y chromosome, 7 had an inversion, 3 had a translocation, 2 had a derivative, 2 had a Yqs and 1 had a deletion. Sixteen were diagnosed with azoospermia, 8 as normal fertile males and 1 as a man who was unable to donate semen due to mental retardation. One of the patients having 45,X/46,X,idic(Y) was reported to be phenotypically female with primary amenorrhea and without uterus. Deletions of the AZFbc region were correlated with the sperm concentration (p < 0.05), but no correlation with the levels of FSH, LH, testosterone, prolactin and estradiol were found. The present report shows that the precise identification of structural Y chromosome aberrations may be clinically important for genetic counseling and assisted reproductive technology treatment.

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Publisher Full Text

Authors

Kim JW, Park SY, Ryu HM, Lee DE, Lee BY, Kim SY, Park YS, Lee HS, Seo JT

Institution

Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University School of Medicine, Seoul, Korea.

Source

Cytogenetic and genome research 136:4 2012 pg 270-7

MeSH

Adult
Azoospermia
Chromosome Banding
Chromosome Deletion
Chromosome Inversion
Chromosomes, Human, Y
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Middle Aged
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Translocation, Genetic
Young Adult

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22688216