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De novo 13q paracentric inversion in a boy with cleft palate and mental retardation

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Summary

A paracentric inversion in chromosome 13, inv(13)(q12q22), is described in a boy with mild mental retardation and multiple minor anomalies. Bromodeoxyuridine-late replication studies showed no changes in the replication pattern of bands in the abnormal chromosome 13. The relation between the proband's phenotype and his inv(13) is unclear.

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Authors and Affiliations

  1. Kleberg Genetics Center, Department of Medicine, Baylor College of Medicine, Texas Medical Center, 7703, Houston, TX, USA

    V. M. Riccardi & G. P. Holmquist

  2. Department of Pediatrics, Baylor College of Medicine, Texas Medical Center, 77030, Houston, TX, USA

    V. M. Riccardi & G. P. Holmquist

  3. Department of Obstetrics and Gynecology, Baylor College of Medicine, Texas Medical Center, 77030, Houston, TX, USA

    V. M. Riccardi & G. P. Holmquist

Authors
  1. V. M. Riccardi
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  2. G. P. Holmquist
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Supported in part by the General Clinical Research Center, Texas Children's Hospital, Houston, TX and an NIH grant (GM 23905) to G.H.

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Riccardi, V.M., Holmquist, G.P. De novo 13q paracentric inversion in a boy with cleft palate and mental retardation. Hum Genet 52, 211–215 (1979). https://doi.org/10.1007/BF00271575

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  • DOI: https://doi.org/10.1007/BF00271575

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