Molecular cytogenetic diagnosis of Williams syndrome

Journal Article · Fri Aug 23 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960823)64:3<473::AID-AJMG5>3.0.CO;2-Q· OSTI ID:539403

Hirota, Hamao; Matsuoka, Rumiko; Kimura, Misa ^[1]

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1. Heart Institute of Japan, Tokyo (Japan); and others

Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, mental retardation, and congenital heart defect (particularly supravalvular aortic stenosis), associated at times with infantile hypercalcemia. Molecular genetic studies have indicated that hemizygosity at the elastin locus (7q11.23) causes WS. The purpose of this study was to confirm that this regional deletion, involving the elastin locus, is the cause of WS in Japan, and to clarify the correlation between the phenotype and the elastin locus. Thirty-two patients with WS and thirty of their relatives were examined by fluorescent in situ hybridization (FISH), using the WS chromosome region (WSCR) probe. All patients had cardiovascular disease (100%), 30 had typical WS facial changes (94%), 31 had mental retardation or developmental delay (97%), 16 were small-for-date at birth (50%), 14 had short stature (44%), and 13 had dental anomalies (41%). No relatives showed any manifestation of WS. Hemizygosity for a region of 7q11.23, involving the elastin locus, was found in all WS patients, but was not found in the 30 relatives. 22 refs., 4 figs., 1 tab.

• OSTI ID: 539403
• Journal Information: American Journal of Medical Genetics, Vol. 64, Issue 3; Other Information: PBD: 23 Aug 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HEREDITARY DISEASES
DIAGNOSIS
PATIENTS
CONGENITAL MALFORMATIONS
GROWTH
MENTAL DISORDERS
CARDIOVASCULAR DISEASES
PHENOTYPE
GENES
GENETIC MAPPING
GENE MUTATIONS
HUMAN CHROMOSOME 7
JAPAN
PROBES
IN-SITU HYBRIDIZATION
FLUORESCENCE
DOMINANT MUTATIONS
BIOLOGICAL MARKERS