Literature DB >> 939554

A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation.

J Nielsen, K Rasmussen, L B Lassen, F Christansen.   

Abstract

A family with autosomal reciprocal translocation t(4;13) (q25;a31) with a sibship comprising 2 children with unbalanced karyotypes, der(13) partial trisomy 4q, 1 child with the balanced translocation, and 2 abortions were studied. The segregation risk of unbalanced derivation in reciprocal translocations is discussed. The clinical picture of the 2 children with partial trisomy 4q is compared with similar cases.

Entities:  

Mesh：

Year:  1976        PMID： 939554     DOI： 10.1007/bf00295827

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  [Phenotypic variation in partial trisomy 4q (author's transl)].

Authors:  W Vogel; J W Siebers; J Gunkel
Journal:  Humangenetik       Date:  1975-06-19

2.  Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation.

Authors:  H G Schrott; S Sakaguchi; U Francke; L Luzzatti; P J Fialkow
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

3.  Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.

Authors:  A De la Chapelle; M Koivisto; J Schröder
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

4.  Partial trisomy 4 resulting from a 4-18 reciprocal translocation.

Authors:  R B Surana; P E Conen
Journal:  Ann Genet       Date:  1972-09

5.  Chromosome studies in 5,049 consecutive newborn children.

Authors:  U Friedrich; J Nielsen
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

6.  [Partial B trisomy in cat-cry-syndrome (author's transl)].

Authors:  A Schwingshackl; E Ganner
Journal:  Padiatr Padol       Date:  1973

7.  Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4qminus; 18qplus).

Authors:  C Fonatsch; S D Flatz
Journal:  Humangenetik       Date:  1974

8.  The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.

Authors:  T Caspersson; G Lomakka; L Zech
Journal:  Hereditas       Date:  1972       Impact factor: 3.271

9.  Presumably balanced translocations involving the same band of chromosome No. 4 found in two mentally retarded, dysmorphic individuals.

Authors:  F Skovby; E Niebuhr
Journal:  Ann Genet       Date:  1974-12

10.  Incidence of chromosome aberrations among 11148 newborn children.

Authors:  J Nielsen; I Sillesen
Journal:  Humangenetik       Date:  1975-10-20
View more
  5 in total

1.  Partial trisomy 4q in two unrelated cases.

Authors:  M Andrle; A Erlach; A Rett
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

Review 2.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

3.  Nondisjunction of a translocation-chromosome t(4;13).

Authors:  M Westmeier; P Kaiser; W Hellwig-Beato; E D Steuber; G Körver; I Ribhegge
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  Endocrine abnormalities in a patient with partial trisomy 4q.

Authors:  M A Angulo; M Castro-Magana; J Sherman; P J Collipp; J Milson; C Trunca; A N Derenoncourt
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.