Pseudoisodicentric X chromosome in a female with primary amenorrhea.
- Author:
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
Author Information
1. Genetic Laboratory, Fertility Center of CHA General Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Pseudoisodicentric X chromosome;
Variant Turner syndrome;
Interphse FISH;
low level mosaicism
- MeSH:
Amenorrhea;
Chromosome Deletion;
Female;
Fluorescence;
Humans;
In Situ Hybridization;
Interphase;
Karyotype;
Mosaicism;
Trisomy;
Turner Syndrome;
X Chromosome;
Young Adult
- From:Journal of Genetic Medicine
2008;5(1):61-64
- CountryRepublic 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.
