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KMID : 1189120080050020139
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대한의학유전학회지
2008 Volume.5 No. 2 p.139 ~ p.144
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Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier
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Lee Bom-Yi
Ryu Hyun-Mee
Kim Hye-Ok
Park Ju-Yeon
Lee Moon-Hee
Park So-Yeon
Kim Min-Hyeung
Kim Jin-Woo
Lee Joong-Shik
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Abstract
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We report on two cases of pericentric inversion of X chromosome, which were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) showed normal ranges of LH, prolactin, estradiol, and testosterone but elevated FSH. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There was no microdeletion on the 6 loci of Y chromosome. In the second case, the cytogenetic result of the pregnant woman referring for advanced maternal age and the family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among her family members, the karyotypes of older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband’s father was 46,Y,inv(X)(p22.11q27.2). These all carriers of the family were fertile and were phenotypically normal. Additionally the ratio of inactivation of inv(X) by RBG banding was discordant between two sisters, that the older sister showed only 4.1% of cells carrying inactivated inv(X) while the proband had 69.5% inv(X) late replicating. Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also the family showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.
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KEYWORD
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Pericentric inversion of X chromosome, Azoospermia, Prenatal diagnosis
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