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KMID : 1189120080050010061
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대한의학유전학회지
2008 Volume.5 No. 1 p.61 ~ p.64
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Pseudoisodicentric X chromosome in a female with primary amenorrhea
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Park Sang-Hee
Shim Sung-Han
Chin Mi-Uk
Kang Soo-Jin
Bae Sung-Mi
Son Soo-Min
Cha Dong-Hyun
Yoon Tae-Ki
Cho Jung-Hyun
Yoon Tae-Ki
Cho Jung-Hyun
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Abstract
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A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with an LSI Kallmann (KAL) region probe [probes for Xp22.3(KAL) and CEP(X) for control] was carried out. The abnormal chromosome was KAL- and CEP(X)×2. In addition, interphase FISH analysis revealed the patient to be mosaic for two different cell lines: 90% of cells had three signals and 10% of the cells had only one signal for CEP(X). Based on these results, the karyotype of the patient was 45,X/46,X,psu idic(X)(p22.1), which is partial trisomy for Xqter→Xp22.1 and partial monosomy for Xpter→Xp22.1. This karyotype was considered a variant of Turner syndrome. In summary, Idic(X) and low-level mosaicism was successfully characterized by FISH analysis with a CEP(X) probe.
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KEYWORD
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Pseudoisodicentric X chromosome, Variant Turner syndrome, Interphse FISH, low level mosaicism
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