Description:
WILLIAMS-BEUREN SYNDROME; WBS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY.ish del(7)(q11.23q11.23)(ELN-).arr 7q11.23(72363696-73780028)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| ELASTIN |
CCR FISH analysis with a probe for the elastin gene at 7q11.23 showed one of the chromosomes 7 to be deleted for the elastin gene for this Williams syndrome subject. |
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| Cytogenetics |
Chromosome 7: DELETION Aneuploid Segment (-)7q11>7q11 |
| Remarks |
Failure to thrive; prolonged colic; hypervariable speech; good long-term memory; visuo-spatial problems; characteristic facial features; cardiovascular defects; hypercalcemia in childhood; abnormal gait; hoarse voice; strong attraction to music/perfect pitch |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A, Submicroscopic deletion in patients with williams-beuren syndrome influences expression levels of the nonhemizygous flanking genes American journal of human genetics79:332-41 2006 |
| PubMed ID: 16826523 |
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