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A case of 46,XY,t(1;13) (q24;q32) with mental retardation

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Summary

A 14-year-old mentally retarded boy with congenital malformations of unknown etiology was found to have a de novo apparently balanced reciprocal translocation between chromosomal arms 1q and 13q. There is only one other case where a similar translocation was observed but the breakpoints could be localized only by regions and the individual was not mentally retarded.

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Authors and Affiliations

  1. New York State Institute for Basic Research in Mental Retardation, 1050 Forest Hill Road, 10314, Staten Island, New York, USA

    Lorraine Wilbur, Frances M. Curcuru-Giordano, Nataline B. Kardon & Edmund C. Jenkins

  2. Willowbrook Developmental Center, 10314, Staten Island, New York, USA

    Sita G. Krishna

Authors
  1. Lorraine Wilbur
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  2. Frances M. Curcuru-Giordano
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  3. Sita G. Krishna
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  4. Nataline B. Kardon
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  5. Edmund C. Jenkins
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Wilbur, L., Curcuru-Giordano, F.M., Krishna, S.G. et al. A case of 46,XY,t(1;13) (q24;q32) with mental retardation. Hum Genet 37, 239–242 (1977). https://doi.org/10.1007/BF00393588

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  • DOI: https://doi.org/10.1007/BF00393588

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