Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features

Authors

  • Kosuke Izumi,

    Corresponding author
    1. Department of Genetics, Case Western Reserve University, Cleveland, Ohio
    2. Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio
    3. Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio
    Current affiliation:
    1. Division of Human Genetics, The Children's Hospital of Philadelphia, Pennsylvania
    • Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.
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  • Amanda Hahn,

    1. Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio
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  • Laurie Christ,

    1. Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio
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  • Christine Curtis,

    1. Department of Genetics, Case Western Reserve University, Cleveland, Ohio
    2. Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio
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  • Derek E Neilson

    1. Department of Genetics, Case Western Reserve University, Cleveland, Ohio
    2. Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio
    3. Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio
    Current affiliation:
    1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
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  • How to Cite this Article: Izumi K, Hahn A, Christ L, Curtis C, Neilson DE. 2011. Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features. Am J Med Genet Part A 155:1384–1389.

Abstract

Partial trisomy 9q involving the duplication of band 9q22 is manifested by a constellation of symptoms including short stature, intellectual disability, microcephaly, pyloric stenosis, facial dysmorphism, and various defects of the heart, distal extremities, eyes, thyroid, and esophagus. In three family members with growth retardation, mild intellectual disability, and mild facial dysmorphism, array-based comparative genomic hybridization analyses showed a familial microduplication at 9q22.3. On the basis of the described functions of the duplicated genes, PTCH1 represents a candidate gene that may be responsible for the phenotypic findings, although the 14 other genes in this duplicated segment may also contribute to the phenotype. The current report provides evidence to support a specific phenotype associated with a 9q22.3 microduplication and confirm localization of a subset of the trisomy 9q phenotype to this chromosomal region. © 2011 Wiley-Liss, Inc.

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