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Aberrational Y chromosome is known to be unstable and usually lost during mitosis, and this is the reason why usually a mosaicism with 45, X cell line is detected in most patients. However, Y chromosome with the terminal deletion associated with its nondisjunction leading the mosaic with three cell lines was a rare event. We reported here a 30-year-old infertile man with azoospermia, presenting a male phenotype with complete masculinization. He had normal male external genitalia with slightly soft and marked small testes. The concentrations of serum LH, testosterone, estradiol and prolactin of the patient were within normal ranges whereas concentration of FSH was higher. Biopsy of a testis was performed and the pathological result showed the presence of only Sertoli cells and absence of germ cells in all examined seminiferous tubules. No ovarian tissue was found. Chromosome analysis of blood lymphocytes revealed a mosaicism with 46,Xdel(Y)(q11) line in 68% of the metaphases, coexisting with 45,X and 47, Xdel (Y) del (Y) cell lines in the remaining metaphases (27%, 5%). Furthermore, fluorescent in-situ hybridization with X/Y CEP probe confirmed the cytogenetic result. The C- band showed the loss of the heterochromatin region and the breakpoint of deleted Y chromosome was located at q11. Fourteen STS loci were used to determine the Y chromosomal breakpoint. The results showed the presence of AZFa loci and absence of AZFb and AZFc loci. The breakpoint was between sY88 and sY95. As we know this is the first case with a karyotype 45,X/46,Xdel(Y)/ 47,Xdel(Y) del(Y), which will offer an example that Y chromosome with terminal deletion occur nondisjunction during mitosis division.
Key words: Reproductive Genetics •
Spermatogenesis
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