De novo t(4;5) (q3100; q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment |
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| Authors: | Horacio,Rivera ,Araceli,Roló n ,José ,Sá nchez-Corona José Marí a, Cantú |
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| Affiliation: | División de Genética, Subjefatura de Investigatión Científica, Unidad de Investigatión Biomédica, Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico |
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| Abstract: | An 8-month-old boy with multiple malformations and psychomotor retardation was found to have a de novo t(4;5)(q1300;q2200) with del(5)(q1500q2200). The phenotypical comparison with 10 similar monosomic cases from the literature led us to tentatively delineate a 5q monosomy syndrome and to postulate the band 5q15 as the correspondent critical segment. |
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| Keywords: | Deletion human chromosomes 5q monosomy syndrome translocation |
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