Document Detail


22q13 deletion syndrome with central diabetes insipidus: a previously unreported association.
MedLine Citation:
PMID:  15194959     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a two-year-old girl with 22q13 deletion syndrome (MIM # 606232), 46, XX, de l (22) (q13.31). ish del (22) (q13.31) (TUPLE 1+,ARSA-). The patient has hypotonia, normal growth, severe expressive language delay, mild mental retardation, and minor dysmorphic facial features. In addition, she had central diabetes insipidus that was diagnosed at age two days and resolved at age 27 months. To our knowledge, this association has not been reported previously. Infants with hypotonia, or those suspected to have this syndrome should have high-resolution chromosome analysis and fluorescent in situ hybridization (FISH) studies or molecular analysis, since the chromosomal deletion may be subtle and may go undetected on routine cytogenetic studies. The association of 22q13 deletion syndrome with central diabetes insipidus is reported for the first time.
Authors:
Amin J Barakat; Phillip L Pearl; Maria T Acosta; Beatriz P Runkle
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  13     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2004 Jul 
Date Detail:
Created Date:  2004-06-14     Completed Date:  2005-01-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  191-4     Citation Subset:  IM    
Affiliation:
Georgetown University Medical Center, Washington, DC, USA. aybarakat@aol.com
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Diabetes Insipidus / complications,  genetics*
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Language Development Disorders / genetics
Mental Retardation / complications,  genetics*
Syndrome

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


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