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  • Title: Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
    Author: Chitayat D, Ruvalcaba RH, Babul R, Teshima IE, Posnick JC, Vekemans MJ, Scarpelli H, Thuline H.
    Journal: Am J Med Genet; 1995 Jan 16; 55(2):147-54. PubMed ID: 7717413.
    Abstract:
    We report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf-Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome.
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