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Article

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).

American journal of medical genetics. Part A - 1 Aug 2006

Mikhail Fady M, McIlvried Dawn, Holt R Lynn, Messiaen Ludwine, Descartes Maria D, Carroll Andrew J

Abstract excerpt

We report on an 8-year-old girl with near-complete trisomy 17p syndrome due to a de novo unbalanced t(14;17)(p11.2;p11.2). She has features consistent with the previously described cases with complete trisomy 17p, including pre- and post-natal growth retardation, motor and mental retardation, skeletal anomalies, clinodactyly of the 5th finger, hypertrichosis, as well as facial characteristics including...

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PMID: 16835929
DOI: 10.1002/ajmg.a.31330

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