Trisomy 9p due to paternal translocation, t(9;13)(q13;q12)
- 1 January 1975
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 30 (4) , 307-316
- https://doi.org/10.1007/bf00275143
Abstract
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).Keywords
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