Document Detail


Pallister-Mosaic syndrome and neuronal migration disorder.
MedLine Citation:
PMID:  12850516     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We diagnosed Pallister-Mosaic syndrome (PMS) in a 4-month-old female infant. In addition to the presence of non-specific anomalies, involving anorectal, finger and ear anomalies, characteristic cranio-facial features and irregular skin lesions that appeared after age 2 months suggested the possibility of genetic mosaicism, PMS in particular. Fluorescence in situ hybridization technique revealed an extra copy of chromosome 12p; i (12p) in 30% of cultured skin fibroblasts. When focal skin lesions accompany neurodevelopmental disabilities in early infancy, genetic analysis for mosaicism should be considered for differential diagnosis. Significantly, we describe several phenotypic features and neuroimaging findings of the PMS in the present case, which have not been described in previous reports. The neuroimaging abnormalities we encountered, such as polymicrogyria, speculating congenital brain anomaly, may explain the severe motor and intellectual disabilities of PMS.
Authors:
Masao Adachi; Rie Urata; Reiko Takashima; Hajime Miyamoto; Shuichi Tsuneishi; Hajime Nakamura
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Brain & development     Volume:  25     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-07-09     Completed Date:  2003-09-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  357-61     Citation Subset:  IM    
Affiliation:
Department of Pediatric Neurology, Kobe Medical Center for the Persons with Severe Motor and Intellectual Disabilities (SMID), 14-1, Nakaichiriyama, Shimo-tanigami, Yamada-cho, Kita-ku, Kobe, Hyogo 651-1102, Japan. ama-p@rc4.so-net.ne.jp
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MeSH Terms
Descriptor/Qualifier:
Brain Mapping
Chromosome Aberrations
Chromosomes, Human, Pair 12*
Ear / abnormalities
Female
Fibroblasts / metabolism,  pathology
Humans
In Situ Hybridization, Fluorescence / methods
Infant
Magnetic Resonance Imaging
Mosaicism / genetics*,  pathology,  physiopathology
Pick Disease of the Brain / genetics*,  pathology*
Skin Diseases / diagnosis,  genetics*,  physiopathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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