Tetrasomy 9p confirmed by GALT.
نویسندگان
چکیده
We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case with those of previously reported patients, tetrasomy 9p appears to be a distinctive and clinically recognisable malformation syndrome.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 20 5 شماره
صفحات -
تاریخ انتشار 1983