Isochromosome of Yp in a man with Sertoli-cell-only syndrome.
OBJECTIVE
To address phenotype/genotype correlation in a man with i(Y)(p10).


METHODS
Case report.


METHODS
University-based reproductive genetics laboratory.


METHODS
A 27-year-old azoospermic man with i(Y)(p10), relatively normal stature, and testicular Sertoli-cell-only syndrome.


METHODS
Testicular biopsy, cytogenetic study, Y-chromosome deletion mapping analysis, fluorescence in situ hybridization (FISH).


METHODS
Expression of Y-chromosome genes.


RESULTS
We have identified one azoospermic man with i(Y)(p10) of 312 Taiwanese men presenting with a severe spermatogenic defect. Y-chromosome deletion mapping analysis confirmed deletions of all Yq sequences, including a putative growth controlling gene. Fluorescence in situ hybridization (FISH) analysis showed duplication of Yp material. The patient had normal stature considering midparental height. He also had no germ cells in the testicular tissue (Sertoli-cell-only syndrome) resulting from the loss of azoospermia factor in Yq.


CONCLUSIONS
Among structural rearrangements of the Y-chromosome, the isochromosome of Yp occurs very rarely. This case is the first reported case of an isochromosome Yp with a detailed description of testicular histology and body height.
Lin
Ying Hui
YH
Department of Obstetrics and Gynecology, National Cheng-Kung University Medical College, Tainan, Taiwan.
Chuang
Louise
L
Lin
Yung Ming
YM
Lin
Ying Hung
YH
Teng
Yeng Ni
YN
Kuo
Pao Lin
PL
D000328:Adult; D001706:Biopsy; D041322:Chromosomes, Human, Y; D006801:Humans; D018404:Isochromosomes; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology*; D012708:Sertoli Cells; D013737:Testis / Q000473:pathology