CLINICAL AND CYTOGENETIC FINDINGS IN 7 CASES OF INVERTED DUPLICATION OF 8P WITH EVIDENCE OF A TELOMERIC DELETION USING FLUORESCENCE IN-SITUHYBRIDIZATION

We report on the clinical and cytogenetic findings in 7 cases of inver ted duplication of region 8p11.2-p23. The phenotype of inv dup (8p) co mpiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis o f 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 ca ses studied using fluorescent in situ hybridization with a telomeric p robe 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) p robably have a telomeric deletion. (C) 1995 Wiley Liss, Inc.