title: A novel 2.43 Mb deletion of 7q11.22-q11.23.
abstract: We present a patient with a novel heterozygous deletion of 7q11.22-q11.23. Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. Although he has supravalvular aortic stenosis and peripheral pulmonary artery stenosis, which are common in this condition, he does not have the clinical gestalt of Williams syndrome. 44k oligo array CGH analysis showed a 2.43 Mb deletion, encompassing the proximal 1.43 kb of the Williams syndrome critical region and extending approximately 1 Mb beyond it. The deletion of further genes outside the Williams syndrome critical region does not appear to be having a phenotypic effect at present.
authors.affiliation: Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK. moira.blyth@suht.swest.nhs.uk
authors.forename: Moira
authors.initials: M
authors.lastname: Blyth
authors.forename: Sarah
authors.initials: S
authors.lastname: Beal
authors.forename: Shuwen
authors.initials: S
authors.lastname: Huang
authors.forename: John
authors.initials: J
authors.lastname: Crolla
authors.forename: Nicola
authors.initials: N
authors.lastname: Foulds
mesh_terms: D020029:Base Pairing / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D017384:Sequence Deletion; D018980:Williams Syndrome / Q000235:genetics