Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23) |
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Authors: | Domínguez María G Wong-Ley Luis E Rivera Horacio Vásquez Ana I Ramos Alma L Sánchez-Urbina Rocío Morales J A Figuera Luis E |
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Affiliation: | División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Jalisco, Guadalajara, Mexico. |
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Abstract: | There have only been eight patients with 6p pure trisomy involving different segments: four cases resulted from a translocation or insertion and four were due to an intrachromosomal duplication. We report here the first postnatally ascertained patient with a pure 6p partial trisomy due to an interchromosomal insertion (16;6)(p12;p21.2p23)mat. This rearrangement was confirmed by fluorescent in situ hybridization (FISH) with whole chromosome 6 and 16 painting probes. The clinical findings in the present patient were similar to those observed in previous cases, including craniofacial dysmorphism, minor anomalies, and lack of severe anatomical defects; yet, the unspecificity of many of these features prevented us from delineating the 6p pure trisomy syndrome. |
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Keywords: | Interchromosomal insertion Pure 6p duplication |
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