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

Hum Genet. 1980;53(3):303-4. doi: 10.1007/BF00287045.

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Mapping
  • Chromosomes, Human, 13-15*
  • Chromosomes, Human, 4-5*
  • Extrachromosomal Inheritance
  • Factor X / genetics
  • Factor X Deficiency / genetics*
  • Female
  • Humans
  • Hypoprothrombinemias / genetics*
  • Intellectual Disability / genetics
  • Syndrome
  • Translocation, Genetic*

Substances

  • Factor X