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  • Title: Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization.
    Author: Guo WJ, Callif-Daley F, Zapata MC, Miller ME.
    Journal: Am J Med Genet; 1995 Sep 11; 58(3):230-6. PubMed ID: 8533823.
    Abstract:
    We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia (66%), orthopedic abnormalities (58%), scoliosis/kyphosis (40%), and congenital heart defect (26%). A telomeric deletion of region 8p23.3-pter was confirmed in 3 of our cases studied using fluorescent in situ hybridization with a telomeric probe for 8p. Thus, these karyotypes are inv dup del(8) (qter-->p23.1::p23.1-->p11.2:). Our findings suggest that most cases of inv dup(8p) probably have a telomeric deletion.
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