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Genetic Haploinsufficiency as a Phenotypic Determinant of a Deletion 13q Syndrome

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Pediatric and Developmental Pathology

Abstract

Two cases of newborns with deletion 13q syndrome were identified and studied using electron microscopy and histologic, immunohistochemical, and special stained sections. We reviewed the published literature on genes that are haploinsufficient in the deletion 13q syndrome. The complexity of the deletion 13q syndrome phenotype is due at least in part to the haploinsufficiency of dosage-sensitive genes. Future studies need to be performed to identify their precise role in the cellular function and the development of the deletion 13q syndrome phenotype.

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Acknowledgments

We thank Marilyn Jones, MD, of Children’s Hospital in San Diego for reviewing the manuscript and Henry Powell, MD, and Larry Hanson, MD, from the Department of Pathology, University of California of San Diego, University Medical Center for direct contribution to this work.

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Authors and Affiliations

  1. Department of Pathology, University of California, San Diego, University Medical Center, 200 West Arbor Drive, San Diego, California, 92103-8321, USA

    Armen G. Kasyan

  2. Department of Pathology and Reproductive Medicine, University of California, San Diego, University Medical Center, 200 West Arbor Drive, San Diego, California, 92103-8321, USA

    Kurt Benirschke

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  1. Armen G. Kasyan
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  2. Kurt Benirschke
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Correspondence to Armen G. Kasyan.

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Kasyan, A.G., Benirschke, K. Genetic Haploinsufficiency as a Phenotypic Determinant of a Deletion 13q Syndrome. Pediatr Dev Pathol 8, 658–665 (2005). https://doi.org/10.1007/s10024-005-0066-z

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  • DOI: https://doi.org/10.1007/s10024-005-0066-z

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