22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?
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.
Okamoto
Nobuhiko
N
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. okamoto@osaka.email.ne.jp
Kubota
Takeo
T
Nakamura
Yutaka
Y
Murakami
Ryusuke
R
Nishikubo
Toshiya
T
Tanaka
Ichiro
I
Takahashi
Yukihiro
Y
Hayashi
Shin
S
Imoto
Issei
I
Inazawa
Johji
J
Hosokai
Noboru
N
Kohsaka
Shinichi
S
Uchino
Shigeo
S
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
D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human