[Application of chromosome microarray analysis for patients with skeletal anomalies and a normal karyotype].
OBJECTIVE
To analyze patients with skeletal anomalies (SA) but a normal karyotype using chromosome microarray analysis (CMA).


METHODS
From June 2012 to May 2015, 43 children found to have skeletal anomalies with or without other abnormalities were subjected to karyotyping analysis. For those with a normal karyotype, DNA was extracted and hybridized with Affymetrix CytoScan 750 kb arrays following the manufacturer's protocol. The results were analyzed with CHAS v2.0 software.


RESULTS
Two patients (4.65%) were detected with an abnormal karyotype. The remaining 41 patients with a normal karyotype were classified into 3 groups: isolated SA (n=17), SA with mental retardation (n=6), and SA with other structural anomalies (n=18). Clinically significant copy number variations (CNVs) were found in 21.95% (9/41) of the cases, which included 17.65% (3/17) with isolated SA, 33.33% (2/6) with SA and mental retardation, and 22.22% (4/18) of SA with other structural deformities.


CONCLUSIONS
Whole-genome CMA can detect clinically significant CNVs which may not be found by conventional karyotyping analysis and increase the detection rate by approximately 21.95%. It may be recommended for patients with SA but a normal karyotype.
Institute of Perinatology and Birth Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China. canliao@hotmail.com.
Qiaoli
Q
Guo
Fang
F
Fu
Ru
R
Li
Yongling
Y
Zhang
Xin
X
Yang
Jin
J
Han
Min
M
Pan
Li
L
Zhen
Can
C
Liao
D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D056915:DNA Copy Number Variations; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D020411:Oligonucleotide Array Sequence Analysis