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- Title
Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations.
- Authors
Kim, J.-W.; Park, S.-Y.; Ryu, H.-M.; Lee, D.-E.; Lee, B.-Y.; Kim, S.-Y.; Park, Y.-S.; Lee, H.-S.; Seo, J.-T.
- 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. Copyright © 2012 S. Karger AG, Basel
- Subjects
Y chromosome abnormalities; CHROMOSOME analysis; CHROMOSOME abnormalities; MOLECULAR genetics; MALE reproductive organs
- Publication
Cytogenetic & Genome Research, 2012, Vol 136, Issue 4, p270
- ISSN
1424-8581
- Publication type
Article
- DOI
10.1159/000338413