[Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area].

The spectrum and frequency of mutations of exon 7 of the gene for phenylalanine hydroxylase (PAH) were studied in 34 phenylketonuria (PKU) patients living in Novosibirsk oblast. The five most prevalent mutations constituted 17.64% of defective alleles: R243Q (1.

[Case of unbalanced translocation (18, 22) in a child with congenital mental retardation].

A cytogenetical examination of a boy aged 4 with congenital mental deficiency and multiple anomalies of its phenotype has revealed unbalanced translocation (18, 22) (18 qter----cen----22 qter).