Meiotic behavior of the sex chromosomes in a 45,X/46,X,r(Y)/46,X,dic r(Y) patient whose semen was assessed by fluorescence in situ hybridization.
OBJECTIVE
To determine the meiotic behavior of a ring Y chromosome in a semen sample from a 45,X/46,X,r(Y)/46,X,dic r(Y) patient and the possible interchromosomal effects of the ring on other chromosome pairs.


METHODS
Retrospective analysis.


METHODS
Universitat Autònoma de Barcelona.


METHODS
An oligoasthenoteratozoospermic patient who presented for infertility consultation.


METHODS
The sex chromosome content of spermatogenic cells, meiotic figures, and spermatozoa in the ejaculate and the possible interchromosomal effects on chromosomes 13, 18, and 21 were analyzed by using multicolor fluorescence in situ hybridization. Germ-cell aneuploidies were scored.


RESULTS
X0 cells are meiotically incompetent. All meiotic figures were exclusively XY, and 80% showed unpaired sex chromosomes. A high proportion of postreductional cells were XY (45.5%) or nullisomic for sex chromosomes (13.92%). This percentage decreased in spermatozoa to 14.89% and 27.66%, respectively. A statistically significant increase in X-bearing versus Y-bearing cells both in postreductional cells (23.9% vs. 14.3%) and spermatozoa (41.9% vs. 19.3%) was also observed. Evidence for an interchromosomal effect on chromosome 21 was detected.


CONCLUSIONS
Data suggest that this patient had a generalized increase incidence of chromosome anomalies, underscoring the importance of incorporating screening for sperm aneuploidies in genetic analysis of affected patients.
Blanco
Joan
J
Unitat de Biologia Cel-lular, Facultat de Ciències, Universitat Autònoma de Barcelona, Bellaterra, Spain. Joan.Blanco@uab.es
Farreras
Arantza
A
Egozcue
Josep
J
Vidal
Francesca
F
D002882:Chromosomes, Human, Pair 13 / Q000235:genetics / Q000502:physiology; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics / Q000502:physiology; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics / Q000502:physiology; D041321:Chromosomes, Human, X / Q000235:genetics / Q000502:physiology; D041322:Chromosomes, Human, Y / Q000235:genetics / Q000502:physiology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008540:Meiosis / Q000235:genetics / Q000502:physiology*; D008856:Microscopy, Fluorescence; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D012189:Retrospective Studies; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations; D013094:Spermatozoa / Q000166:cytology / Q000648:ultrastructure*