Application of spectral karyotyping in diagnosis of complex chromosome aberration.

Author: Min PAN ¹ ; Can LIAO ; Dong-zhi LI ; Cui-xing YI ; Si-min YUAN
Author Information

1. Birth Health Perinatal Medicine Institute, Women and Children Hospital of Guangzhou, Guangzhou Medical College, Guangzhou, Guangdong, 510180 P. R. China.
Publication Type:Case Reports
MeSH: Adult; Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; diagnosis; genetics; Female; Gene Duplication; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Reproducibility of Results; Sensitivity and Specificity; Spectral Karyotyping; methods; Translocation, Genetic
From: Chinese Journal of Medical Genetics 2007;24(4):474-476
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo determine the value of spectral karyotyping (SKY) to identify the complex chromosome aberration.
METHODSFour cases were selected that can not be identified by standard cytogenetic techniques. The chromosome specimens were detected by the routine SKY method, and the results were analyzed by the SKY View software.
RESULTSBy using SKY a case of complex chromosome rearrangements and two cases of chromosome duplication were identified. However it could not identify the chromosome inversion and the breakpoint of chromosome aberration.
CONCLUSIONSKY may be a valuable tool in identification of complex chromosome translocation, rearrangement, minute aberration and unknown derivative chromosomes. Though SKY can not replace the standard cytogenetic techniques, but it will be the benefit supplementary.