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Pure partial trisomy of the short arm of chromosome 5 |
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| Authors: | Marie Odile Rethoré Marie Christine de Blois Marie Peeters P. Popowski C. Pangalos J. Lejeune |
| Affiliation: | (1) Recherches INSERM, Institut de progenèse, 45, Rue des Saints-Pères, F-75270 Paris Cédex 06, France;(2) Centre Claude Bernard sur la Génétique Humaine et les Maladies de l'intelligence, Institut de progenèse, 45, Rue des Saints-Pères, F-75270 Paris Cédex 06, France;(3) 2, Boulevard Sellier, F-91230 Montgeron, France |
| Abstract: | Summary We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32  5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature. |
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