These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: On the excess of mental retardation and/or congenital malformations in apparently balanced reciprocal translocations. A critical review of the Leuven data 1966-1991.
    Author: Fryns JP, Kleczkowska A, Kubień E, Van Den Berghe H.
    Journal: Genet Couns; 1991; 2(4):185-94. PubMed ID: 1799415.
    Abstract:
    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. Important conclusions of this study were: 1) The high incidence of MR/CM in de novo rcpt, not only in patients with complex chromosomal rearrangements (greater than 80%) but also in patients with classical two breaks rcpt (greater than 60%). In contrast, the phenotypic effect of normal/mosaic rcpt seems to be minimal. 2) The overall incidence of MR/CM in carriers of familial balanced rcpt was 6.4%. Interestingly, the incidence of MR/CM problems in rcpt carriers from families detected because of reproductive failure was not increased (2.3%). However, the risk to find MR/CM in a rcpt carrier was much higher (12.8%) if he/she belonged to a family in which the rcpt was detected in an index patient with MR/CM.
    [Abstract] [Full Text] [Related] [New Search]