PMID- 11190824
OWN - NLM
STAT- MEDLINE
DCOM- 20010315
LR  - 20191027
IS  - 0300-8630 (Print)
IS  - 0300-8630 (Linking)
VI  - 212
IP  - 6
DP  - 2000 Nov-Dec
TI  - [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and 
      molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
PG  - 299-307
AB  - BACKGROUND: The suspected diagnosis of Williams-Beuren syndrome (WBS), which is a 
      retardation syndrome with great clinical variability, was cause for comparison of 
      molecular genetic, molecular cytogenetic analysis to clinical symptoms. The 
      results of the genetical analysis of a microdeletion of the elastin gene region 
      on chromosome 7 were compared to the clinical symptoms. Are there any differences 
      between symptoms in case of deletion or non-deletion? How informative are the 
      molecular genetic, molecular cytogenetic analysis? PATIENTS AND METHODS: 44 
      patients with suspected diagnosis of WBS were examined using molecular genetic 
      and molecular cytogenetic methods. The clinical symptoms as general symptoms, 
      heart anomaly, dysmorphic signs and unusual neurobehavioural features were 
      reported during clinical investigation in standardized questionnaires. The 
      genomic DNA of the patients and their parents was analyzed using microsatellite 
      markers. In some cases (e.g. uninformative microsatellite studies) we also used 
      fluorescence in situ hybridization (FISH) with an elastin gene probe and 
      performed a conventional chromosome banding analysis. RESULTS: 15 patients had a 
      microdeletion. 4 patients had a deletion of the paternal allel and 7 patients 
      showed the deletion of the maternal allel. The polymorphisms were of limited 
      informativeness. In 2 cases microsatellite analysis was not able to determine 
      whether the paternal or the maternal allel had been lost. In 2 cases the 
      microsatellite analysis was uninformative so that FISH analysis was performed. 
      All FISH analysis performed had an informative result. 80% of the children with a 
      microdeletion of chromosome 7q11.23 showed the typical dysmorphic signs, 70% 
      exhibited the typical WBS behaviour pattern, 50% had a specific heart anomaly. In 
      contrast, in the group of children without a chromosomal microdeletion only 
      30-40% showed typical dysmorphic signs, only 10% had a typical heart anomaly and 
      none of them showed specific behavioural changes. We found no indication to 
      association of specific symptoms with paternal versus maternal origin of the 
      deletion. The FISH analysis combined with a conventional chromosome banding 
      analysis is very informative for diagnostic values. The results are compared to 
      data of literature. CONCLUSIONS: Children with developmental retardation and WBS 
      dysmorphic signs and an unusual behaviour should be examined by a molecular 
      cytogenetic FISH analysis. If a microdeletion of band 7q11.23 is found a special 
      cardiologic examination should be offered.
FAU - von Beust, G
AU  - von Beust G
AD  - Institut fur Humangenetik, Universitat Gottingen.
FAU - Laccone, F A
AU  - Laccone FA
FAU - del Pilar Andrino, M
AU  - del Pilar Andrino M
FAU - Wessel, A
AU  - Wessel A
LA  - ger
PT  - English Abstract
PT  - Journal Article
TT  - Klinik und Genetik des Williams-Beuren-Syndroms. Klinische und 
      molekulargenetische Untersuchung von 44 Patienten mit Verdacht auf WBS.
PL  - Germany
TA  - Klin Padiatr
JT  - Klinische Padiatrie
JID - 0326144
RN  - 9007-58-3 (Elastin)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Alleles
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 7
MH  - Elastin/genetics
MH  - Female
MH  - Follow-Up Studies
MH  - Genetic Testing
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Phenotype
MH  - Williams Syndrome/diagnosis/*genetics
EDAT- 2001/02/24 12:00
MHDA- 2001/03/17 10:01
CRDT- 2001/02/24 12:00
PHST- 2001/02/24 12:00 [pubmed]
PHST- 2001/03/17 10:01 [medline]
PHST- 2001/02/24 12:00 [entrez]
AID - 10.1055/s-2000-9605 [doi]
PST - ppublish
SO  - Klin Padiatr. 2000 Nov-Dec;212(6):299-307. doi: 10.1055/s-2000-9605.