Monosomy 10q26-qter and trisomy 11q13-qter as a result ofde novo unbalanced translocation |
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| Authors: | F Tinsa Y Chebbi M Meddeb D Bousnina K Boussetta S Bousnina |
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| Institution: | 1. Department of Paediatrics of the Children’s Hospital of Tunis, Boulevard 9 avril, 1007 Jabbary, Bab Saadoun, Tunis, Tunisia
2. Laboratory of Genetics, Tunisia
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| Abstract: | A male infant with partial monosomy 10 q and partial trisomy 11q as a result ofde novo unbalanced translocation between the long arms of chromosomes 10 and 11: der(10)t(10;11)(q26;q13) is described. He had craniofacial
dysmorphy, congenital heart defects, urogenital and cerebral anomalies, and severe developmental delay. To the best of our
knowledge, this is the first report of this combination of chromosomal abnormalities. |
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