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Abstract
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.
| Authors: | Jérôme Rambaud, Isabelle Marey, Céline Dupont, Laurence Perrin‐Sabourin, Yline Capri, Anne Claude Tabet, Brigitte Benzacken, Alain Verloes, Azzedine Aboura, Marion Gérard | |
| Journal: | American Journal of Medical Genetics Part A | |
| Year: | 2012 | |
| Pages: | n/a | |
| DOI: | 10.1002/ajmg.a.35494 | |
| Publication date: | 20-07-2012 |
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