Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation.
OBJECTIVE
To report two azoospermic patients with reciprocal X-autosome translocations.


METHODS
Cytogenetic analysis utilizing GTG-banding and Yq microdeletions shown by polymerase chain reaction (PCR) with 12 sequence-tagged site (STS) markers for Y chromosome microdeletions.


RESULTS
Cytogenetic analysis showed one man with 46,Y,t(X;19)(q22;q13.3) and the other with 46,Y,t(X;8)(p22;q11). Neither had any Yq microdeletions shown. The patient with 46,Y, t(X;8)(p22;q11) showed a slightly lower than normal testosterone level. By NCBI-Blast search, we found four testis-specific genes, t-complex-associated-testis-expressed 1-like (TCTE1L), Ferritin, heavy polypeptide-like 17 (FTHL17), Testis expressed sequence 13A (TEX13A), and Testis expressed sequence 13B (TEX13B) located near breakpoints on X chromosome. FTHL17, TEX13A, and TEX13B are spermatogonially-expressed, germ-cell-specific genes.


CONCLUSIONS
This is the first clinical report of azoospermia with reciprocal X-autosome translocations on Xp22 and q22. These translocations on Xp22 and q22 may be direct genetic risk factors for azoospermia.
Lee
Suman
S
Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University, Seoul, Republic of Korea. suman@cha.ac.kr
Lee
Sook-Hwan
SH
Chung
Tae-Gyu
TG
Kim
Hyun-Joo
HJ
Yoon
Tae-Ki
TK
Kwak
In-Pyung
IP
Park
Sang-Hee
SH
Cha
Won-Tae
WT
Cho
Sung-Won
SW
Cha
Kwang-Yul
KY
D000328:Adult; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D020732:Cytogenetic Analysis; D006801:Humans; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000097:blood / Q000235:genetics*; D014178:Translocation, Genetic