Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15)).
An abnormal karyotype consisting of 48 chromosomes has been found in a 16-year-old boy with severe psychomotor retardation and congenital anomalies. The two extra chromosomes: a 15q - and a small metacentric marker appear as derivatives of chromosome 15(48, XY, + 15q -, + mar(15). The healthy father has a mosaic chromosome constitution 46, XY/47, XY, + mar(15) and this additional chromosome is also present in the propositus. It is suggested that the presence of the extra chromosome in the father's germ cells may play a role in the production of the additional 15q - chromosome responsible for the clinical syndrome of the propositus.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D007738:Kyphosis / Q000235:genetics; D008297:Male; D008957:Models, Genetic; D009030:Mosaicism; D011596:Psychomotor Disorders / Q000235:genetics*; D014314:Trisomy