Literature DB >> 157697

Reproductive risk of t(13q14q) carriers: case report and review.

D J Harris, L Hankins, M L Begleiter.   

Abstract

We report a four-generation kindred with a balanced 13q14q Robertsonian translocation. The proband had the Down sydrome, due to trisomy of chromosome 21; he also carried the balanced D-group translocation. S segregation analysis of 86 sibships was performed to examine the risk of t(13q14q) carrier parents having trisomy 21, 47,XXY, or trisomy 13 children by which a number of families were ascertained. None of these disorders recurred after birth of the propositi. The frequency of abortions was not different from that of the general population. The conditional segregation ratio for balanced translocation carriers among the phenotypically normal offspring of carrier parents was 0.55 +/- 0.04.

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Mesh：

Year:  1979        PMID： 157697     DOI： 10.1002/ajmg.1320030208

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 in total

1.  Preconceptional diagnosis for Robertsonian translocation as an alternative to preimplantation genetic diagnosis in two situations: a pilot study.

Authors:  D Molina Gomes; I Hammoud; M Bailly; M Bergere; R Wainer; J Selva; F Vialard
Journal:  J Assist Reprod Genet       Date:  2009-01-28       Impact factor: 3.412

2.  The association of t (13q, 14q) with Down's syndrome and its inheritance.

Authors:  T Sudha; S Jayam; R Ramachandran
Journal:  Indian J Pediatr       Date:  1990 Mar-Apr       Impact factor: 1.967

3.  Analysis of meiotic segregation in a man heterozygous for a 13;15 Robertsonian translocation and a review of the literature.

Authors:  F Pellestor
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

4.  Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes.

Authors:  S A Berend; J Horwitz; C McCaskill; L G Shaffer
Journal:  Am J Hum Genet       Date:  2000-04-19       Impact factor: 11.025

5.  Paternal Robertsonian translocation t(13q;14q) and maternal reciprocal translocation t(7p;13q) in a couple with repeated fetal loss.

Authors:  P R Scarbrough; A J Carroll; J B Younger; S C Finley
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318

6.  Chromosome abnormality in couples with histories of multiple abortions. The outcome of pregnancies subsequent to ascertainment and a study of familial translocation carriers.

Authors:  J Wolstenholme; M J Faed; J Robertson; M A Lamont
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Hypospadias and gynecomastia in a male associated with autosomal balanced translocation.

Authors:  D S Krishna Murthy; V C Shah; A K Chadha; S K Murthy; A B Desai
Journal:  Indian J Pediatr       Date:  1985 Jul-Aug       Impact factor: 1.967

8.  Chromosomal Aberrations in 224 Couples with Recurrent Pregnancy Loss.

Authors:  Ghada Mohamed Elhady; Soha Kholeif; Nahla Nazmy
Journal:  J Hum Reprod Sci       Date:  2020-12-28
  8 in total

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