Article
[Phenotypic disorders in balanced reciprocal translocation: karyotype 46,XY,rcp(13; 21)(q22; q22)].
TSitologiia i genetika - 1 Jan 2000
Badalian L O, Malygina N A, Gozman T V, Petrukhin A S, Mutovin G R
Abstract excerpt
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 bre...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, 13-15
- Chromosomes, Human, 21-22 and Y
- Humans
- Infant
- Karyotyping
- Male
- Phenotype
- Translocation, Genetic
