Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic left-heart syndrome.
- Author:
Yan WANG
1
;
Ding-yuan MA
;
Yin-qiu YANG
;
Jing ZHOU
;
Xiao-yan ZHOU
;
Xiu-qing JI
;
Jian CHEN
;
Li CAO
;
Ping HU
;
Zheng-feng XU
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Comparative Genomic Hybridization; methods; DNA Copy Number Variations; Female; Fetus; metabolism; Humans; Hypoplastic Left Heart Syndrome; diagnosis; genetics; metabolism; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2012;29(4):439-442
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the copy number variations (CNVs) of a fetus with hypoplastic left-heart syndrome, and to assess the value of array-based comparative genomic hybridization (array-CGH) for molecular cytogenetic diagnosis.
METHODSThe whole genome of a fetus with normal karyotype by G-banding was scanned and analyzed by array-CGH, and the CNVs was confirmed by multiplex ligation-dependent probe amplification (MLPA).
RESULTSTwo submicroscopic CNVs [del(11)(q24.1-ter)(121951443-134449216, -12.50 Mb),dup(15)(q26.3)(96889082-100215359, -3.33 Mb)] were identified and mapped by array-CGH. MLPA test confirmed both CNVs.
CONCLUSIONDel (11) (q24.1-ter) may contribute to hypoplastic left-heart syndrome of the fetus. For its high-resolution and high-accuracy, array-CGH has provided a powerful tool for detection of genomic imbalance.
