engleski

Family reciprocal translocation (8 ; 16)

Amniotic fluid sample from 32 year old pregnant woman was taken and send in our laboratory to perform prenatal cytogenetic diagnosis by standard techniques with GTG staining. Result was karyotype with reciprocal balanced translocation 46, XY, t(8 ; 16)(p21.3 ; q22). Parents were referred to our outpatient clinic for genetic counselling. They presented the following family history: two female children 8, 5 and 6 years old with mental retardation, husband’ s brother and aunt are also mentaly retarded. Blood samples were taken from both parents and chromosome analysis had been carried out on peripheral lymphocytes by standard techniques with GTG staining. Mother had normal female karyotype. Father had karyotype with the same balanced translocation as fetus. It was recomended to reffer their two daughters and husband’ s brother for cytogenetic study. Clinical findings of girls were: mental retardation and facial dysmorphism. Blood samples were taken from both girls for chromosome analysis by standard techniques with GTG staining and Fluorescence in situ hybridization. Karyotypes of both girls were pathologic with derivative chromosome 8, resulting from translocation (8 ; 16) in father: 46, XX, der(8)t(8 ; 16)(p21.3 ; q22)pat. It means that girls have partial trisomy of chromosome 16 and partial monosomy of chromosome 8, which is the reason for their mental retardation.

Amniotic fluid; Reciprocal translocation (8; 16)

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