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.
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 / Tupler, Rossella; P., Maraschio; A., Gerardo; R., Maineri; G., Lanzi; L., Tiepolo. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - STAMPA. - 29:(1992), pp. 253-255.
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1
TUPLER, Rossella;
1992
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.
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