Tetrasomy 9p confirmed by GALT.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics; D014564:Urogenital Abnormalities
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase