We present a female child with mild mental retardation and congenital malformations. After fluorescence in situ hybridization (FISH) we found only abnormal karyotype in all cells. We used rapid FISH and original DNA probes--PAC62.10.1 and PAC20.19.N, specific for segments of chromosome 16q24. Karyotype of proband 46,XX.ish del(16)(q24.2:) (PAC20.19.N,PAC62.10.1-). Parent karyotypes are normal. This case may suggest the presence of clinical picture 16q- with defined clinical polymorphism at small telomeric loss, and also its necessary of the use of molecular-cytogenetic techniques in genetic departments.

Adolescent↗

PubMedDate not supplied

[Biochemical diagnosis of mannosidosis in 2 families].

On examination of children with primary diagnosis of mucopolysaccharidosis distinct deficiency of acid alpha-D-mannosidase was found in leukocytes of the children and decrease in the enzymatic activity down to the level of heterozygote carriers was observed in their parents. The activity of neutral alpha-D-mannosidase was within the range of normal values in the children and parents. The examination carried out enabled to establish the diagnosis the hereditary lysosomal disease of accumulation--mannosidosis--in the children.

Adolescent↗