Molecular cytogenetic analysis for a familial complex chromosomal rearrangement.
- Author:
Wei-ping QIAN
1
;
Yue-qiu TAN
;
Wai-mui TJIA
;
Dan SONG
;
Xin-yuan GUAN
;
Guang-xiu LU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosomes, Human, Pair 10; genetics; Chromosomes, Human, Pair 16; genetics; Chromosomes, Human, Pair 20; genetics; Chromosomes, Human, Pair 5; genetics; Cytogenetic Analysis; methods; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Pregnancy; Translocation, Genetic
- From: Chinese Journal of Medical Genetics 2005;22(3):302-304
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine a complex chromosomal rearrangement by advanced molecular cytogenetic techniques and analyze its clinical effect.
METHODSA complex chromosomal rearrangement (CCR) involved in chromosomes 5, 16 and 20 in a 29-year-old male carrier was determined by chromosomal microdissection and multicolor fluorescence in situ hybridization (M-FISH), and family degree investigation was further performed.
RESULTSThe karyotype of the case was a complex chromosomal translocation among chromosomes 5, 20 and 16, and accompanied with a band of chromosome 20 inserted into chromosome 5. His mother and sister both had the same abnormal karyotype by familial investigation.
CONCLUSIONThe combined use of M-FISH and chromosome microdissection is a powerful tool to determine CCR. The complex chromosomal rearrangement could be transmitted stably in the family, but still the carriers could give birth to a healthy baby by chance.
