PMID- 11253493
OWN - NLM
STAT- MEDLINE
DCOM- 20010503
LR  - 20061115
IS  - 0028-2162 (Print)
IS  - 0028-2162 (Linking)
VI  - 145
IP  - 9
DP  - 2001 Mar 3
TI  - [Williams syndrome: new insights into genetic etiology, pathogenesis and clinical 
      aspects].
PG  - 396-400
AB  - Williams syndrome (WS) is a developmental disorder characterized by distinct 
      facial features, congenital heart disease, mental retardation and a gregarious 
      personality. The majority of people with this disorder have a submicroscopic 
      deletion of genes in chromosome band 7q11.23. This deletion can be detected using 
      fluorescence in situ hybridization (FISH). Although the condition is usually 
      sporadic a few familial cases with autosomal dominant inheritance have been 
      described. A clinical scoring system has been developed by Selicorni with which a 
      diagnosis of 'Williams syndrome' can be made; in all patients in whom the 
      diagnosis was made in this way FISH results were positive.
FAU - van Hagen, J M
AU  - van Hagen JM
AD  - VU Medisch Centrum, afd. Klinische Genetica en Antropogenetica, Postbus 7057, 
      1007 MB Amsterdam. a.vanhagen@azvu.nl
FAU - Govaerts, L C
AU  - Govaerts LC
FAU - de Coo, I F
AU  - de Coo IF
FAU - Gille, J J
AU  - Gille JJ
FAU - Nieuwint, A W
AU  - Nieuwint AW
FAU - Madan, K
AU  - Madan K
LA  - dut
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Williams-syndroom: nieuwe inzichten in genetische etiologie, pathogenese en 
      kliniek.
PL  - Netherlands
TA  - Ned Tijdschr Geneeskd
JT  - Nederlands tijdschrift voor geneeskunde
JID - 0400770
SB  - IM
MH  - Child
MH  - Chromosomes, Human, Pair 7/genetics
MH  - Diagnosis, Differential
MH  - Gene Deletion
MH  - Genetic Counseling
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Incidence
MH  - Mosaicism
MH  - Netherlands/epidemiology
MH  - Phenotype
MH  - *Williams Syndrome/diagnosis/epidemiology/genetics/physiopathology
RF  - 22
EDAT- 2001/03/20 10:00
MHDA- 2001/05/05 10:01
CRDT- 2001/03/20 10:00
PHST- 2001/03/20 10:00 [pubmed]
PHST- 2001/05/05 10:01 [medline]
PHST- 2001/03/20 10:00 [entrez]
PST - ppublish
SO  - Ned Tijdschr Geneeskd. 2001 Mar 3;145(9):396-400.