Application of array-CGH and MLPA for detection of 4 cryptic unbalanced translocations.
- VernacularTitle:应用Array-CGH及MLPA技术检测核型不明的4例染色体不平衡易位
- Author:
Qian GENG
1
;
Weiqing WU
;
Fuwei LUO
;
Zhiyong XU
;
Wubin CHEN
;
Fang LI
;
Jiansheng XIE
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Child; Chromosome Deletion; Chromosome Duplication; Comparative Genomic Hybridization; Humans; Infant; Karyotyping; Male; Multiplex Polymerase Chain Reaction; Phenotype; Translocation, Genetic
- From: Chinese Journal of Medical Genetics 2013;30(3):288-292
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.
METHODSGenomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.
RESULTSAll of the cases were identified to have unbalanced translocations by array-CGH analysis, among which 3 were consistent with subtelomeric MLPA analysis. For the remaining one, its chromosomal abnormality was not detected by MLPA as the imbalance has occurred outside of target regions.
CONCLUSIONBoth array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.
