title: Williams syndrome in a preterm infant with phenotype of Alagille syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Prakesh S
authors.initials: PS
authors.lastname: Shah
authors.forename: Prashanth
authors.initials: P
authors.lastname: Murthy
authors.forename: David
authors.initials: D
authors.lastname: Skidmore
authors.forename: Lisa G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: Bassem A
authors.initials: BA
authors.lastname: Bejjani
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D016738:Alagille Syndrome / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D018980:Williams Syndrome / Q000235:genetics*