Literature DB >> 8062440

Partial trisomy and monosomy 8p due to inversion duplication.

J J Engelen1, C E de Die-Smulders, J P Fryns, J M Hoovers, J C Albrechts, W J Loots, M E Jacobs, A J Hamers.   

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.

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Year:  1994        PMID： 8062440     DOI： 10.1111/j.1399-0004.1994.tb04024.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.

Authors:  S L Graw; T Sample; J Bleskan; E Sujansky; D Patterson
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

Authors:  J J Engelen; C E de Die-Smulders; J M Sijstermans; L E Meers; J C Albrechts; A J Hamers
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

3.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802
  3 in total

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