Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure.
OBJECTIVE
To identify a cryptic Y chromosome fragment that resulted from a X;Y translocation in a patient with premature ovarian failure (POF) and analyze the karyotype-phenotype correlation.


METHODS
Case report.


METHODS
A university-based reproductive medicine center.


METHODS
A 33-year-old woman with POF.


METHODS
Karyotyping analysis, comparative genomic hybridization, fluorescence in situ hybridization, and polymerase chain reaction (PCR) analysis for the patient.


METHODS
Karyotype determination of the patient.


RESULTS
The patient was suspected to carry an abnormal X chromosome by traditional cytogenetic analysis. A Y chromosome hybridization signal was found in the patient's genome by comparative genomic hybridization analysis. The fluorescence in situ hybridization result showed that the Y chromosome material resulted from a translocation between Xq and Yq. Using the specific sequence-tagged sites, the breakpoints on the X and Y chromosomes were located at Xq26.3 and Yq11.223, respectively. Combined with chromosome G banding and C banding, the karyotype of the patient was determined as 46,X,der(X)t(X;Y) (q26.3;q11.223).


CONCLUSIONS
The advanced molecular cytogenetic techniques are helpful to detect cryptic chromosome aberrancies in patients with POF. This rare case supports that Xq26-q28 is the critical region of POF, and is helpful to analyze the risk of gonadoblastoma in patients with POF with Y chromosomal material.
Cheng
De-Hua
DH
Institute of Reproduction and Stem Cell Engineering, Reproductive and Genetic Hospital of Citic Xiangya, Central South University, Changsha, Peoples Republic of China.
Tan
Yue-Qiu
YQ
Di
Yu-Fen
YF
Li
Lu-Yun
LY
Lu
Guang-Xiu
GX
D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D053938:DNA Fragmentation; D005260:Female; D006801:Humans; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis* / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*