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  • Title: Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.
    Author: White DM, Pillers DA, Reiss JA, Brown MG, Magenis RE.
    Journal: Am J Med Genet; 1995 Jul 17; 57(4):588-97. PubMed ID: 7573135.
    Abstract:
    Interstitial deletions of chromosome 4 have been described rarely and have had variable presentations. We describe the phenotypic characteristics associated with interstitial deletion of the p14-16 region of chromosome 4 in 7 patients with multiple minor anomalies in common, and with mental retardation. A review of published cases of interstitial deletions of the short arm of chromosome 4 is provided. These deletions present a distinct phenotype which is different from that of Wolf-Hirschhorn syndrome.
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