De novo X/X translocation in a patient with secondary amenorrhea.
A 46,X,t(X;X) (qter-->p22;;p22-->qter) karyotype was found in the chromosome analysis of a 22 years old female patient with secondary amenorrhea. Further analysis with fluorescence in situ hybridization indicated that the marker chromosome had one active and one inactive centromere originating from the X chromosome. RBG-banding showed that the derivative X chromosome was preferentially inactivated in cultured lymphocytes.
Tarkan
Y
Y
Genetic and Teratology Research Centre (GETAM), Cerrahpaşa Medical Faculty, Istanbul University, Turkey.
Hacihanefioğlu
S
S
Silahtaroğlu
A N
AN
Deviren
A
A
Topçuoğlu
D
D
Cenani
A
A
D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology / Q000473:pathology; D014178:Translocation, Genetic; D014960:X Chromosome