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Balanced X;15 translocation 46,X,t(X;15)(q21;q23) associated with primary amenorrhea

✍ Scribed by Ji, Xue-Wen ;Chen, Xiao-Yi ;Tan, Jun ;Liang, Hong ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 201 KB
Volume: 31
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320310409

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✦ Synopsis

Cytogenetic studies on a woman with primary amenorrhea showed an X;15 translocation, karyotype 46,X,t(X; 15)(q2 1 ;q23). Fifteen percent of the buccal cells showed a normal-sized sex chromatin body. The normal X chromosome was uniforrniy inactivated. Many baianced X; 15 translocations have been reported; however, breakpoints in our patient differ from those reported previously. This case also supports earlier evidence that ovarian development fails when the breakpoint of the X chromosome is in the region X q13-q25 or q13-q27.

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