[Phenotypic disorders in balanced reciprocal translocation: karyotype 46,XY,rcp(13; 21)(q22; q22)].
Clinical and cytogenetical analyses of a 2-month child revealed multiple congenital malformations and minor abnormalities characteristic of 13q- and 21q-syndromes. Phenotypic disturbances seem to be due to a balanced reciprocal translocation between the long arms of chromosomes 13 and 21 with breakage points in 13q22 and 21q22. A possibility of the position effect of genes located near the breakage points is discussed as a reason of the features observed.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D002904:Chromosomes, Human, 21-22 and Y / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic
Fenotipicheskie narusheniia pri sbalansirovannoĭ retsiproknoĭ translokatsii: kariotip 46,XY,rcp(13; 21)(q22; q22).