Author:

Keywords:

Adult, Child, Preschool, Chromosome Banding, Chromosome Inversion, Chromosomes, Human, Pair 8, DNA Probes, Female, Humans, In Situ Hybridization, Fluorescence, Infant, Karyotyping, Male, Monosomy, Trisomy, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, CHROMOSOMAL DELETION, CHROMOSOME-8, CHROMOSOME PAINTING, FLUORESCENT IN-SITU HYBRIDIZATION, INVERSION DUPLICATION, INVERTED TANDEM DUPLICATION, INSITU HYBRIDIZATION, MENTAL-RETARDATION, SHORT ARM, LIBRARIES, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studied using G-banding techniques, chromosome painting and FISH with cosmid probes specific for the region 8p23.1-->8pter. In all cases we found a partial inversion duplication of 8p along with a deletion of the region 8p23.1-->8pter.