Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. Issue 7 (23rd May 2013)

• Record Type: Journal Article
• Authors: Shimada, Shino; Okamoto, Nobuhiko; Hirasawa, Kyoko; Yoshii, Keisuke; Tani, Yumi; Sugawara, Midori; Shimojima, Keiko; Osawa, Makiko; Yamamoto, Toshiyuki
• Is Part Of: American journal of medical genetics. Volume 161:Issue 7(2013:Jul.)
• Page Start: 1779
• Page End: 1785
• Publication Date: 2013-05-23
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35975
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35975-sec-0001" sec-type="section"> <p>Subtelomeric imbalances are a frequent cause of cytogenetic abnormalities in patients with unexplained intellectual disability. Functional disomy of Xq28 involving the methyl‐CpG‐binding protein 2 gene (<italic>MECP2</italic>) has been observed mostly in subtelomeric duplications. We identified three patients with functional disomy of Xq28. A female patient showed an unbalanced translocation between 12q24.33 and Xq28. Two male patients showed an unbalanced translocation between Xq27.1‐ Yq11.22 and a recombinant X‐chromosome containing duplicated material from Xq27.1 on Xp telomere, respectively. All three patients exhibited severe developmental delay, hypotonia, seizures, and distinctive facial features, including flat nasal bridge and hypertelorism. Additionally, brain magnetic resonance imaging (MRI) showed characteristic findings in each patient, including frontal dominant brain atrophy and hypoplasia of the corpus callosum, which are common findings in patients with functional disomies of Xq28 and interstitial duplications of Xq28, including <italic>MECP2</italic>. Brain MRI revealed a cystic lesion in the periventricular white matter in a patient, similar to our previous experience in patients with <italic>MECP2</italic> duplication syndrome. Thus, white matter abnormalities may frequently be seen in cases of patients with additional <italic>MECP2</italic> copies. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>