Wu Lingqian, Liu Jing, Lv Weigang, Wen Juan, Xia Yan, Liang Desheng
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, People's Republic of China.
Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):467-70. doi: 10.1002/bdra.23118. Epub 2013 Jul 4.
Interstitial 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.
Cytogenetic 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.
A 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.
An 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.
间质性Xp重复很少被描述，尤其是在男性中。男性患者表现出智力缺陷（ID）以及取决于重复大小和位置的各种先天性畸形。
对先证者及其母亲进行了细胞遗传学和分子分析，包括使用标准G显带、R显带、荧光原位杂交以及用于拷贝数变异检测的阵列比较基因组杂交分析。
在患有ID和语言发育迟缓的男孩及其无症状母亲中检测到Xp21.3p11.4区域12,168,283 bp的间质性重复。
在一名患有ID和语言发育迟缓的男孩中，在分子水平上对Xp21.3p11.4重复进行了特征描述。通过比较先前报道的病例和我们的患者，进行了间质性Xp重复的基因型-表型相关性分析。
