Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).
A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow palate, poorly modelled auricles, funnel chest, kyphoscoliosis, umbilical and inguinal hernias, and cubitus valgus. He had normal stature and did not have any apparent malformations.
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002877:Chromosomes, Human / Q000648:ultrastructure; D002900:Chromosomes, Human, 1-3; D005500:Follow-Up Studies; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy