Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

TY - JOUR

T1 - Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

AU - Brøndum-Nielsen, K

AU - Beck, B

AU - Gyftodimou, J

AU - Hørlyk, H

AU - Liljenberg, U

AU - Petersen, M B

AU - Pedersen, W

AU - Petersen, M B

AU - Sand, A

AU - Skovby, F

AU - Stafanger, G

AU - Zetterqvist, P

AU - Tommerup, Niels

N1 - Keywords: Adolescent; Adult; Child; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 7; DNA; Dinucleotide Repeats; Elastin; Female; Gene Deletion; Humans; In Situ Hybridization, Fluorescence; Infant; Karyotyping; Male; Polymorphism, Genetic; Williams Syndrome

PY - 1997

Y1 - 1997

N2 - Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.

AB - Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.

M3 - Journal article

C2 - 9003495

SN - 0340-6717

VL - 99

SP - 56

EP - 61

JO - Human Genetics

JF - Human Genetics

IS - 1

ER -