Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report.
OBJECTIVE
To describe sperm morphology and meiotic segregation in the case of a man with a 46 XY/ 47 XY + 18 mosaic karyotype.


METHODS
A 25-year-old man came to our Centre for semen analysis. Morphological sperm evaluation was performed by light and electron microscopy; meiotic segregation was examined by fluorescence in situ hybridisation (FISH) technique using probes for chromosomes 18, X and Y. PCR was carried out on DNA from peripheral blood lymphocytes to analyze Y microdeletions.


RESULTS
Mathematically elaborated transmission electron microscopy data highlighted a low number of sperm devoid of ultrastructural defects, and the presence of characteristics of apoptosis and immaturity. FISH showed the presence of aneuploidies of chromosome 18 and sex chromosomes.


CONCLUSIONS
In this case of mosaicism morphological and meiotic spermatogenetic impairment is shown, as well as structural chromosomal alterations.
Collodel
G
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Department of General Surgery, Biology Section, Interdepartmental Centre for Research and Therapy of Male Infertility, University of Siena, Policlinico S. Maria alle Scotte, 53100, Siena, Italy.
Cosci
I
I
Pascarelli
A N
AN
Moretti
E
E
D000328:Adult; D000782:Aneuploidy; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008297:Male; D008540:Meiosis; D009030:Mosaicism; D012661:Semen / Q000737:chemistry; D013076:Sperm Count; D013094:Spermatozoa / Q000648:ultrastructure*