Partial trisomy 13 plus partial trisomy 4q due to unusual segregation of translocation chromosomes.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007223:Infant; D014178:Translocation, Genetic; D014314:Trisomy