An Xp21.3p11.4 duplication observed in a boy with intellectual deficiency and speech delay and his asymptomatic mother. Issue 7 (4th July 2013)

• Record Type: Journal Article
• Authors: Wu, Lingqian; Liu, Jing; Lv, Weigang; Wen, Juan; Xia, Yan; Liang, Desheng
• Is Part Of: Birth defects research. Volume 97:Issue 7(2013:Jul.)
• Page Start: 467
• Page End: 470
• Publication Date: 2013-07-04
• Subjects: Teratology -- Periodicals; Abnormalities, Human -- Research -- Periodicals; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1002/bdra.23118
• Languages: English
• ISSNs: 1542-0752

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="bdra23118-sec-0001" sec-type="section"> <title>BACKGROUND</title> <p>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.</p> </sec> <sec id="bdra23118-sec-0002" sec-type="section"> <title>METHODS</title> <p>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.</p> </sec> <sec id="bdra23118-sec-0003" sec-type="section"> <title>RESULTS</title> <p>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.</p> </sec> <sec id="bdra23118-sec-0004" sec-type="section"> <title>CONCLUSION</title> <p>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. <italic>Birth Defects Research (Part A) 97:467–470, 2013</italic>. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>