9p duplication confirmed by gene dosage effect: report of two patients.
We report two cases duplication of 9p. This investigation was prompted by the identification of two patients with minor congenital anomalies and mental retardation. Chromosomal karyotype in both patients revealed 9p duplication, one as a result of tandem duplication of 9p at band p13 leads to p24 and the other due to an extra and deleted chromosome number 9 (pter leads to cent leads to q13). Both patients has elevated galactose-1-phosphate-uridyl-transferase level demonstrating additional evidence for mapping GALT on the short arm of chromosome 9.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000201:enzymology / Q000235:genetics*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005784:Gene Amplification; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase