Title

Clinical and Cytogenetic Findings in Seven Cases of Inverted Duplication of 8p with Evidence of a Telomeric Deletion using Fluorescence in Situ Hybridization

Document Type

Article

Publication Date

9-1995

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Abstract

We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2-p23. 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) (qterp23.1::p23.1p11.2:). Our findings suggest that most cases of inv dup(8p) probably have a telomeric deletion.

DOI

10.1002/ajmg.1320580307

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