[Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects].
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.
VU Medisch Centrum, afd. Klinische Genetica en Antropogenetica, Postbus 7057, 1007 MB Amsterdam. a.vanhagen@azvu.nl
J M
JM
van Hagen
L C
LC
Govaerts
I F
IF
de Coo
J J
JJ
Gille
A W
AW
Nieuwint
K
K
Madan
D002648:Child; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003937:Diagnosis, Differential; D017353:Gene Deletion; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015994:Incidence; D009030:Mosaicism; D009426:Netherlands / Q000453:epidemiology; D010641:Phenotype; D018980:Williams Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology