Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).
A 16-year-old girl with trisomy 9p is described. She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns. The father and 3 other family members carried a balanced translocation between chromosomes 9 and 13, t(9;13)(q13;q12).
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic