Literature DB >> 761418

Partial trisomy 13 plus partial trisomy 4q due to unusual segregation of translocation chromosomes.

C Fonatsch, S D Flatz, E Weitzel.   

Abstract

The cytogenetic analysis of a 7-month-old retarded girl with clinical signs compatible with partial trisomy 13 revealed a translocation t(4;13)(q33;q14) and an additional derivative chromosome 13. This karyotype probably resulted from 3:1 segregation during meiosis of the patient's mother.

Entities:  

Mesh:

Year:  1979        PMID: 761418     DOI: 10.1111/j.1399-0004.1979.tb01758.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  6 in total

1.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

2.  Familial translocation leading to partial trisomy 13: report of three cases.

Authors:  S A Tharapel; R C Lewandowski; M K Kukolich
Journal:  Indian J Pediatr       Date:  1984 Jul-Aug       Impact factor: 1.967

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.  Complex balanced translocation of chromosomes 2, 3, and 13.

Authors:  R S Muneer; D L Donaldson; O M Rennert
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  Frequency of sister chromatid exchanges in a balanced reciprocal whole-arm translocation.

Authors:  A M Schober; C Fonatsch; O Schober
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132

6.  Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members.

Authors:  S Gilgenkrantz; C Defeche; S Stehlin; M J Gregoire
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.