title: 22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?
abstract: We report here on two unrelated patients (Patients 1 and 2) with a cryptic microduplication involving a 22q13 segment. Both patients manifested infantile hypotonia, developmental delay, and growth deficiency. In addition, an abnormal signal intensity area was detected in the frontal white matter of Patient 2 by brain MRI. Whole-genome microarray comparative genomic hybridization for Patient 1 and fluorescence in situ hybridization analysis with 22q-subtelomeric probes performed in both patients showed a submicroscopic 22q13 duplication that involved the SHANK3 gene. The duplication in Patient 1 was de novo type, while that in Patient 2 was derived from a familial 17;22 translocation. The presence of common clinical manifestations in the two patients with the common duplicated region led to a conclusion that 22q terminal duplication is a recognizable clinical entity, that is, the 22q13 microduplication syndrome.
authors.affiliation: Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. okamoto@osaka.email.ne.jp
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Takeo
authors.initials: T
authors.lastname: Kubota
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Ryusuke
authors.initials: R
authors.lastname: Murakami
authors.forename: Toshiya
authors.initials: T
authors.lastname: Nishikubo
authors.forename: Ichiro
authors.initials: I
authors.lastname: Tanaka
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Shin
authors.initials: S
authors.lastname: Hayashi
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto
authors.forename: Johji
authors.initials: J
authors.lastname: Inazawa
authors.forename: Noboru
authors.initials: N
authors.lastname: Hosokai
authors.forename: Shinichi
authors.initials: S
authors.lastname: Kohsaka
authors.forename: Shigeo
authors.initials: S
authors.lastname: Uchino
mesh_terms: D001921:Brain / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008279:Magnetic Resonance Imaging; D009123:Muscle Hypotonia / Q000235:genetics*; D009419:Nerve Tissue Proteins; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human