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[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 breakage points in 13q22 and 21q22. A possibility of the position effect of genes located near the breakage points is...

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PMID: 7101445

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Source receipt: pubmed, retrieved 7 Sept 2026.

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