Literature DB >> 6985462

Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X.

C Stoll, M P Roth.   

Abstract

A girl with mental retardation had a partial trisomy 4q. The chromosome aberration originated from a maternal balanced translocation t(4;13)(q26;q34). The value of Factor X was half the normal value, raising the question of the location of a gene related to the production of Factor X on chromosome 4.

Entities:  

Mesh：

Substances：

Year:  1980        PMID： 6985462     DOI： 10.1007/BF00287045

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


  3 in total

1.  Partial trisomy 4q syndrome: case report and review.

Authors:  J Cervenka; G R Djavadi; R J Gorlin
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

2.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

3.  Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat.

Authors:  R S Sparkes; U Francke; H Muller; K Toomey
Journal:  Ann Genet       Date:  1977-03
  3 in total
  3 in total

1.  Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8.

Authors:  J de Grouchy; M D Dautzenberg; C Turleau; S Beguin; F Chavin-Colin
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  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

3.  Nonrandom distribution of exchange points in patients with reciprocal translocations.

Authors:  C Stoll
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.