Unbalanced 13;18 translocation and Williams syndrome.
نویسندگان
چکیده
A 2 1/2 year old girl is reported with a de novo 13;18 unbalanced translocation and the facial features of Williams syndrome, subaortic stenosis, failure to thrive, and developmental delay. This case provides two candidate locations for the underlying molecular pathology of this sporadic syndrome. Williams syndrome is associated with intellectual and growth retardation, infantile feeding problems which may be associated with hypercalcaemia, cardiovascular abnormalities, a friendly, loquacious personality, and a typical facies. The cause is not known and only a few chromosome abnormalities have been reported in patients with the Williams syndrome phenotype. Many papers fail to mention chromosome studies. We report a girl with an unbalanced 13;18 translocation and the Williams syndrome phenotype.
منابع مشابه
Clinical manifestations of familial 13;18 translocation.
Female first cousins, aged 21 and 2 1/2 years, with many of the characteristic features of trisomy 18, were found to have identical unbalanced translocations, 46,XX,--13, + der(13)t(13;18) (p13;q12)mat. Clinical features of another cousin, two uncles, and an aunt suggested that they, too, had a partial trisomy 18 phenotype. The long survival and normal menstrual and secondary sexual development...
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عنوان ژورنال:
- Journal of medical genetics
دوره 29 1 شماره
صفحات -
تاریخ انتشار 1992