Tetrasomy 9p confirmed by GALT.
Open Access
- 1 October 1983
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 20 (5) , 396-399
- https://doi.org/10.1136/jmg.20.5.396
Abstract
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.Keywords
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