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  • Title: Trisomy for the distal part of the short arm of chromosome 3.
    Author: Lurie IW, Korotkova IA, Zaletajev DV, Smirnova LI, Podlechshuk LV, Gurevich DB.
    Journal: Helv Paediatr Acta; 1986 Mar; 41(6):509-13. PubMed ID: 3583774.
    Abstract:
    A new case is presented of partial trisomy 3p in a one-year-old mentally retarded female infant with characteristic craniofacial dysmorphism and rare-faction of the stroma of the iris. The partial trisomy resulted from paternal balanced translocation t(3;6)(p25;p25). A review of the literature revealed that 1. both sexes are equally affected; 2. holoprosencephaly, found in 4 of 45 cases, may be considered the major and most severe anomaly of this syndrome; 3. the life-span of partial trisomy 3p is shorter than generally believed as most patients with severe malformations probably die before karyotype studies are initiated.
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