Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities.

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  • Additional Information
    • Source:
      Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
    • Publication Information:
      Publication: Hoboken, N.J. : Wiley-Blackwell
      Original Publication: Hoboken, N.J. : Wiley-Liss, c2003-
    • Subject Terms:
      Chromosome Deletion* ; Growth and Development*; Chromosomes, Human, Pair 19/*genetics ; Fingers/*abnormalities ; Intellectual Disability/*complications ; Intellectual Disability/*genetics; Child, Preschool ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; Female ; Humans ; Infant ; Infant, Newborn ; Syndrome
    • Abstract:
      19p13.13 microdeletion has been consistently associated with intellectual disability, overgrowth, and macrocephaly. We report a 19p13.13 microdeletion, detected by array CGH, in a girl with moderate intellectual disability, overgrowth with macrocephaly, prominent digit pads and deep digital creases, hypotonia, ataxia, and strabismus. This clinical report helps to delineate the role of some of the deleted genes, as well as the phenotype of recently described 19p13.13 microdeletion syndrome, including the description of novel digital abnormalities.
      (© 2015 Wiley Periodicals, Inc.)
    • Contributed Indexing:
      Keywords: 19p13.13 microdeletion; NFIX; finger pads; intellectual disability; overgrowth
    • Publication Date:
      Date Created: 20150905 Date Completed: 20160828 Latest Revision: 20200930
    • Publication Date:
      20221213
    • Accession Number:
      10.1002/ajmg.a.37280
    • Accession Number:
      26338046