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Partial 7 q trisomy. One or 2 syndromes? Apropos of a new case] |
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| Authors: | C Turleau A Rossier G de Montis M Roubin F Chavin-Colin J de Grouchy |
| Abstract: | Partial trisomy 7qter due to malsegregation of a familial balanced translocation t(7;8)(q33;p113) is reported in a 2-year-old boy with the following features: psychomotor retardation (IQ = 46); hypotonia; normal; facial asymetry with palpebral fissures slanted downwards and outwards, deeply set eyes, and divergent strabismus. |
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