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Pure monosomy and trisomy 2q24.2→q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations

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Summary

An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described 2q aneusomic individuals led to the conclusion that a large cleft between first and second toes is a constant feature in monosomy 2q24→q31. No other trait could plausible be mapped. Risks of 7.9 to 31.9% for aneusomic children and of 26.3% for abortion were estimated in the present family.

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Authors and Affiliations

  1. División de Genética, Subjefatura de Investigación Científica, Unidad de Investigación Biomédica, Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Apartado Postal 1-3838, Guadalajara, Jalisco, Mexico

    M. Moller, D. García-Cruz, H. Rivera, J. Sánchez-Corona & J. M. Cantú

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  1. M. Moller
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  2. D. García-Cruz
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  3. H. Rivera
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  4. J. Sánchez-Corona
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  5. J. M. Cantú
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Moller, M., García-Cruz, D., Rivera, H. et al. Pure monosomy and trisomy 2q24.2→q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations. Hum Genet 68, 77–86 (1984). https://doi.org/10.1007/BF00293878

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  • DOI: https://doi.org/10.1007/BF00293878

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