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  • Title: Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype.
    Author: Hammoud I, Gomes DM, Bergere M, Wainer R, Selva J, Vialard F.
    Journal: Fertil Steril; 2009 Mar; 91(3):930.e13-5. PubMed ID: 19135661.
    Abstract:
    OBJECTIVE: To examine sperm meiotic segregation in a man with mosaic ring chromosome 21. DESIGN: Case report. SETTING: Hospital departments of reproductive biology, cytogenetics, gynecology, and obstetrics. PATIENT(S): One patient referred for cryptozoospermia, heterozygous for a ring chromosome. INTERVENTION(S): Fluorescence in situ hybridization with chromosome 21-specific probes after sperm selection. RESULT(S): A total of 169 spermatozoa were selected; 92.3% carried a normal 21 chromosome, 6.5% the ring chromosome, and 1.2% both. CONCLUSION(S): Ring chromosome frequency in mature sperm cells was low and may be due to preferential meiosis of normal spermatogonia,which could explain the cryptozoospermia and unexpected ratio in this case.
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