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  • Title: De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.
    Author: Kotzot D, Krüger C, Braun-Quentin C.
    Journal: Clin Genet; 1996 Aug; 50(2):96-8. PubMed ID: 8937769.
    Abstract:
    We report on a case of de novo direct duplication for the distal part of chromosome 3p: 46,XY,dir dup (3) (p25-->pter). At the age of 4 years and 7 months, the boy presented with moderate growth and mental retardation, muscular hypotonia, hypoplasia of the left kidney, a short neck, and a square-shaped face characterized by a broad and flat nasal bridge, slight epicanthus, and full cheeks. So far, only a few cases with such a small distal 3p duplication have been described, and none of them has a de novo direct duplication for this region. In our patient, dysmorphic signs are less impressive, and developmental delay is relatively moderate.
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