Journal of Genetic Medicine  2008;5(1):61-64

Pseudoisodicentric X chromosome in a female with primary amenorrhea.

Sang Hee PARK 1 ; Sung Han SHIM ; Mi Uk CHIN ; Su Jin KANG ; Sung Mi BAE ; Soo Min SOHN ; Dong Hyun CHA ; Tae Ki YOON ; Jung Hyun CHO

Affiliations

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Keywords

Pseudoisodicentric X chromosome; Variant Turner syndrome; Interphse FISH; low level mosaicism

Country

Republic of Korea

Language

Korean

Abstract

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)x2. 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.