Document Detail

Williams syndrome in a preterm infant with phenotype of Alagille syndrome.
MedLine Citation:
PMID:  18688871     Owner:  NLM     Status:  MEDLINE    
We report on a preterm infant born at 31 weeks of gestation with a phenotype suggestive of Alagille syndrome, yet microarray analysis identified a deletion on 7q11.23 at the Williams syndrome locus. The infant died on day 18 of life with overwhelming sepsis. This case illustrates the importance of microarray analysis in diagnosing genetic conditions, especially in preterm babies whose facial and other clinical manifestations have not fully developed.
Prakesh S Shah; Prashanth Murthy; David Skidmore; Lisa G Shaffer; Bassem A Bejjani; David Chitayat
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-09-01     Completed Date:  2008-09-11     Revised Date:  2009-05-04    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2407-11     Citation Subset:  IM    
Copyright Information:
Copyright 2008 Wiley-Liss, Inc.
Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
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MeSH Terms
Alagille Syndrome / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 7 / genetics*
Infant, Newborn
Infant, Premature
Oligonucleotide Array Sequence Analysis
Williams Syndrome / genetics*
Comment In:
Am J Med Genet A. 2009 May;149A(5):1102-3   [PMID:  19396828 ]

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