An Xp21.3p11.4 Duplication Observed in a Boy with Intellectual Deficiency and Speech Delay and His Asymptomatic Mother

作者：Wu, Lingqian; Liu, Jing; Lv, Weigang; Wen, Juan; Xia, Yan; Liang, Desheng^*

来源：Birth Defects Research Part A: Clinical and Molecular Teratology , 2013, 97(7): 467-470.

DOI：10.1002/bdra.23118

• speech delay
• interstitial Xp duplication
• SNP array
• copy number variation analysis
• FISH

BACKGROUNDInterstitial Xp duplications have been rarely described, especially in males. Male patients show intellectual deficiency (ID) and variable congenital malformations depending on the size and the position of the duplication.
METHODSCytogenetic and molecular analyses using standard G-banding, R-banding, fluorescence in situ hybridization, and an array comparative genomic hybridization analysis for copy number variation detection were performed in the propositus and his mother.
RESULTSA 12,168,283 bp interstitial duplication of the Xp21.3p11.4 region was detected in the boy with ID and speech delay and his asymptomatic mother.
CONCLUSIONAn Xp21.3p11.4 duplication was characterized at the molecular level in a boy with ID and speech delay. Genotype-phenotype correlations of interstitial Xp duplications were performed by comparing previously reported cases and our patient. Birth Defects Research (Part A) 97:467-470, 2013.

• 出版日期2013-7
• 单位中南大学