7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover

Journal Article · Tue Oct 01 04:00:00 EDT 1996 · American Journal of Human Genetics

OSTI ID:476767

Urban, Z; Csiszar, K; Boyd, C D ^[1]

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1. and others

Williams syndrome (WS) is a multisystem disorder characterized by mental retardation, a specific neurobehavioral profile, characteristic facies, infantile hypercalcemia, cardiovascular abnormalities, progressive joint limitation, hermas, and soft skin. Recent studies have shown that hemizygosity at the elastin (ELN) gene locus on chromosome 7q is associated with WS. Furthermore, two FISH studies using cosmid recombinants containing the 5{prime} or the 3{prime} end of the ELN gene revealed deletion of the entire ELN gene in 90%-96% of classical WS cases. However, the size of the 7q11.23 deletions and the mechanism by which these deletions arise are not known. 15 refs., 2 figs., 1 tab.

• OSTI ID: 476767
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 59; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
COSMIDS
CROSSING-OVER
DNA HYBRIDIZATION
FLUORESCENCE
GENE MUTATIONS
GENE RECOMBINATION
GENES
GENETIC MAPPING
GENETICS
GENOTYPE
HEREDITARY DISEASES
HUMAN CHROMOSOME 7
MEIOSIS
MENTAL DISORDERS
PATIENTS
PROBES