Inherited parital duplication deficiency of chromosome 15 (p12;q22).
Description of a boy aged 20 months presenting growth and mental retardation as well as several minor anomalies : brachycephaly, antimongoloid slant of the palpebral fissures, dystopia canthorum, broad nose, low set ears and short fingers. Chromosome analysis revealed an abnormal No. 15 with duplication of the distal half segment of its long arm (q22 leads to qter) and deficiency of the distal band of its short arm (p13). This anomaly was inherited by recombination aneusomy of a pericentric inversion carried by his mother : inv(15) (p12;q22).
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002877:Chromosomes, Human / Q000648:ultrastructure; D002901:Chromosomes, Human, 13-15; D005145:Face / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014314:Trisomy