A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.
case_report · Level V
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- Record sourced from PubMed, PMID 1583646.
- Also identified by PMC identifier 1015926.
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Abstract
An unbalanced complex chromosome rearrangement with 10 breakpoints resulting in four derivative chromosomes (1, 2, 4, and 11) was found in a girl with severe phenotypic abnormalities, many of which are characteristic of Williams syndrome. The patient was monosomic for the region 4q33----q35.1 and thus the mapping of the syndrome could tentatively be restricted to this region.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosomes, Human, Pair 4
- Face