Partial trisomy 14q and familial translocation (2;14) (q12;q13).
A female patient with moderate psychomotor retardation, minor anomalies and proximal trisomy 14q due to segregation of a maternal translocation is reported.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy