How to Cite this Article: Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gérard M. 2012. Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication. Am J Med Genet Part A. 158A:2277–2282.
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication†
Article first published online: 20 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 9, pages 2277–2282, September 2012
How to Cite
Rambaud, J., Marey, I., Dupont, C., Perrin-Sabourin, L., Capri, Y., Tabet, A. C., Benzacken, B., Verloes, A., Aboura, A. and Gérard, M. (2012), Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication. Am. J. Med. Genet., 158A: 2277–2282. doi: 10.1002/ajmg.a.35494
- Issue published online: 24 AUG 2012
- Article first published online: 20 JUL 2012
- Manuscript Accepted: 6 MAY 2012
- Manuscript Received: 6 NOV 2011
- trisomy 4p;
- partial trisomy 9p;
- balanced reciprocal translocation;
- segregation mode;
- 3:1 segregation, brachydactyly type B
We report on an 8-month-old girl with intra-uterine growth retardation, microcephaly, incomplete cleft lip, axial hypotonia, failure to thrive, and brachydactyly type B (phalangeal agenesis and absence of nails). She carried a supernumerary marker chromosome derived from chromosomes 4 and 9, leading to 4pter-q12 and 9pter-p21.2 duplication. The marker was derived from the 3:1 segregation of a maternal balanced translocation 46,XX, t(4;9)(q12;p21.2). The proposita is the first reported individual with distal phalangeal agenesis and anonychia, and trisomy 4p and partial trisomy 9p due to 3:1 segregation of a maternal reciprocal translocation. © 2012 Wiley Periodicals, Inc.