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  • Title: A paternally derived inverted duplication of 7q with evidence of a telomeric deletion.
    Author: Stetten G, Charity LL, Kasch LM, Scott AF, Berman CL, Pressman E, Blakemore KJ.
    Journal: Am J Med Genet; 1997 Jan 10; 68(1):76-81. PubMed ID: 8986281.
    Abstract:
    We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2-q36) and a small deletion (within q36) were confirmed by FISH studies. DNA analysis on the family showed that the abnormal chromosome was derived from a single paternal homolog. A mechanism is proposed in light of this finding. The phenotype at autopsy was consistent with reported cases of similar duplications in chromosome 7 in that hydrocephalus, a depressed nasal bridge, low set ears, microretrognathia and a short neck were present.
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