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Trisomy 9p due to paternal translocation, t(9;13)(q13;q12)

✍ Scribed by A. Schinzel; K. Hayashi; W. Schmid

Publisher: Springer
Year: 1975
Tongue: English
Weight: 635 KB
Volume: 30
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00275143

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✦ Synopsis

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).

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