Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X.
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.
D002648:Child; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D005111:Extrachromosomal Inheritance; D005170:Factor X / Q000235:genetics; D005171:Factor X Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D007020:Hypoprothrombinemias / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic
D005170:Factor X