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  • Title: Phenotype-karyotype correlations in dup(18q): report of a case and review.
    Author: Razavi-Encha F, Raoul O, Lescs MC, Danan C.
    Journal: Am J Med Genet; 1985 Jul; 21(3):591-5. PubMed ID: 4025391.
    Abstract:
    We report on a case of dup(18q) due to de novo translocation 46,XX,-21,t(18;21)(18qter----cen----21qter). The patient had many characteristic signs of full trisomy 18 except for internal organ malformations and early death. We review the phenotype-karyotype correlations between full trisomy 18 and dup(18q) and discuss the possibility of the existence of "critical zone(s)" at the proximal or/and distal region of 18q responsible for most signs of trisomy 18, such as congenital heart defect and early death.
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