title: Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
abstract: 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 (MECP2) 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 MECP2. Brain MRI revealed a cystic lesion in the periventricular white matter in a patient, similar to our previous experience in patients with MECP2 duplication syndrome. Thus, white matter abnormalities may frequently be seen in cases of patients with additional MECP2 copies. © 2013 Wiley Periodicals, Inc.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Shino
authors.initials: S
authors.lastname: Shimada
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Kyoko
authors.initials: K
authors.lastname: Hirasawa
authors.forename: Keisuke
authors.initials: K
authors.lastname: Yoshii
authors.forename: Yumi
authors.initials: Y
authors.lastname: Tani
authors.forename: Midori
authors.initials: M
authors.lastname: Sugawara
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics; D014178:Translocation, Genetic; D024182:Uniparental Disomy; D049951:X Chromosome Inactivation
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2