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A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: A case report and review of literature

Authors

  • Mona Khattab,

    1. Department of Pediatrics, Section of Perinatal Medicine, Yale University School of Medicine, New Haven, Connecticut
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  • Fang Xu,

    1. Department of Genetics, Molecular Cytogenetics Laboratory, Yale University School of Medicine, New Haven, Connecticut
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  • Peining Li,

    1. Department of Genetics, Molecular Cytogenetics Laboratory, Yale University School of Medicine, New Haven, Connecticut
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  • Vineet Bhandari

    Corresponding author
    1. Department of Pediatrics, Section of Perinatal Medicine, Yale University School of Medicine, New Haven, Connecticut
    • Department of Pediatrics, Division of Perinatal Medicine, Yale University School of Medicine, LLCI 401B, P.O. Box 208064, New Haven, CT 06520-8064.
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  • How to Cite this Article: Khattab M, Xu F, Li P, Bhandari V. 2011. A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: A case report and review of literature. Am J Med Genet Part A 155: 3082–3086.

Abstract

We describe a female newborn with a de novo 3.54 megabase (Mb) deletion of 17q22-q23.1 (chr17:53,072,536–56,612,662, hg18) including genes from MSI2 to BCAS3 detected by oligonucleotide array comparative genomic hybridization (aCGH). Prenatal ultrasound examination noted oligohydramnios and ventriculomegaly in the fetus. Postnatal examination found hypotonia, macrocephaly, arachnodactyly of fingers and toes, dysmorphic features, bilateral hearing loss and heart defect. Review of reported cases with genomic findings noted one case with proximal deletion involving the NOG gene and a case series with distal recurrent microdeletions involving the TBX2 and TBX4 genes. Our case presented a unique deletion partially overlapped with the above deletions but not including the NOG, TBX2, and TBX4 genes. A genomic map for deletions in this 17q22-q23.1 region was constructed to further define the common deletion intervals for potential haplo-insufficient genes. © 2011 Wiley Periodicals, Inc.

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