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Published on: August 15, 2019
[Genetic analysis of a pedigree affected with congenital split-hand/foot malformation]
Qian Li1, Ming Tong, Canming Chen
1Medical Genetics Center, Yangzhou Maternal and Child Health Care Hospital, the Affiliated Hospital of Yangzhou University Medical College, Yangzhou, Jiangsu 225002, China. husuwei2004@126.com.
Objective:
To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).
Methods:
Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).
Results:
A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.
Conclusion:
The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.
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