Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

Authors

  • Maria Leine Guion-Almeida,

    Corresponding author
    1. Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil
    • HRAC-USP, Rua Silvio Marchione 3-20, CEP 17012-900, Bauru, SP, Brazil.
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  • Antonio Richieri-Costa,

    1. Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil
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  • Fernanda Sarquis Jehee,

    1. Human Genome Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil
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  • Maria Rita Santos Passos-Bueno,

    1. Human Genome Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil
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  • Roseli Maria Zechi-Ceide

    1. Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil
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  • How to Cite this Article: Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MRS, Zechi-Ceide RM. 2012. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. Am J Med Genet Part A. 158A:1676–1679.

Abstract

We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219 kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype. © 2012 Wiley Periodicals, Inc.

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