Article
On the excess of mental retardation and/or congenital malformations in apparently balanced reciprocal translocations. A critical review of the Leuven data 1966-1991.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1991
Fryns J P, Kleczkowska A, Kubień E, Van Den Berghe H
Abstract excerpt
In this report we review 286 reciprocal translocations (rcpt) diagnosed in Leuven in the period 1966, mid 1991. They were selected from a total number of 82,000 patients karyotyped for constitutional reasons. Special attention is paid to: (1) the phenotypic effect of de novo reciprocal chromosomal rearrangements and (2) the incidence of mental retardation/congenital malformations (MR/CM) in familial rcpt....
Topics
- Congenital Abnormalities
- Female
- Follow-Up Studies
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Karyotyping
- Male
- Phenotype
- Translocation, Genetic