Document Detail


Smith-Magenis syndrome: report of one case.
MedLine Citation:
PMID:  14521023     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome characterized by an interstitial deletion on the short arm of chromosome 17 involving the band p11.2. A 3-year-old girl was referred for evaluation of moderate psychomotor retardation and several behavioral problems including self-injuring behavior, hyperactivity, and sleep disturbance. Visual and hearing impairment, and brain abnormalities including ventriculomegaly and hypoplastic right transverse sinus, were detected. Routine cytogenetic study showed an apparent mosaicism of an interstitial deletion over the chromosomal region 17p11.2 in 65% metaphases. However, the microdeletion was found in all metaphases by fluorescence in situ hybridization study with the probe D17S29 (for Smith-Magenis critical region on 17p11.2). Her sleep disorder improved after the use of melatonin.
Authors:
Jia-Woei Hou
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi     Volume:  44     ISSN:  1608-8115     ISO Abbreviation:  Acta Paediatr Taiwan     Publication Date:    2003 May-Jun
Date Detail:
Created Date:  2003-10-02     Completed Date:  2003-11-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  100958202     Medline TA:  Acta Paediatr Taiwan     Country:  China (Republic: 1949- )    
Other Details:
Languages:  eng     Pagination:  161-4     Citation Subset:  IM    
Affiliation:
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, 5, Fu-Shing St. Kwei-Shan, Taoyuan 333, Taiwan.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17*
Female
Humans
Mental Retardation
Syndrome

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


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