PMID- 9003495
OWN - NLM
STAT- MEDLINE
DCOM- 19970220
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 99
IP  - 1
DP  - 1997 Jan
TI  - Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren 
      syndrome, using FISH and four DNA polymorphisms.
PG  - 56-61
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.
FAU - Brondum-Nielsen, K
AU  - Brondum-Nielsen K
AD  - John F. Kennedy Institute, Glostrup, Denmark. kbn@kennedy.dk
FAU - Beck, B
AU  - Beck B
FAU - Gyftodimou, J
AU  - Gyftodimou J
FAU - Horlyk, H
AU  - Horlyk H
FAU - Liljenberg, U
AU  - Liljenberg U
FAU - Petersen, M B
AU  - Petersen MB
FAU - Pedersen, W
AU  - Pedersen W
FAU - Petersen, M B
AU  - Petersen MB
FAU - Sand, A
AU  - Sand A
FAU - Skovby, F
AU  - Skovby F
FAU - Stafanger, G
AU  - Stafanger G
FAU - Zetterqvist, P
AU  - Zetterqvist P
FAU - Tommerup, N
AU  - Tommerup N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 9007-49-2 (DNA)
RN  - 9007-58-3 (Elastin)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 7
MH  - DNA/chemistry/genetics
MH  - Dinucleotide Repeats
MH  - Elastin/*genetics
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - *Polymorphism, Genetic
MH  - Williams Syndrome/*genetics/physiopathology
EDAT- 1997/01/01 00:00
MHDA- 1997/01/01 00:01
CRDT- 1997/01/01 00:00
PHST- 1997/01/01 00:00 [pubmed]
PHST- 1997/01/01 00:01 [medline]
PHST- 1997/01/01 00:00 [entrez]
AID - 10.1007/s004390050311 [doi]
PST - ppublish
SO  - Hum Genet. 1997 Jan;99(1):56-61. doi: 10.1007/s004390050311.