Partial duplication of 17p. A new chromosomal syndrome.
An inherited partial duplication syndrome of 17p is described. A comparison of the symptoms of a de novo partial duplication of 17p (Latta and Hoo, 1974) and those of our own case seems to indicate a characteristic syndrome. The main features include a small-for-date baby born at full term, small stature, microcephaly, typical facial changes, a heart defect, contractures of different joints, and deformities of the feet. The patients show severe motor and mental retardation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D005145:Face / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome