Go to content
UR Home

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8

Mitchell, J J, Vekemans, M, Luscombe, S, Hayden, M, Weber, Bernhard H. F. , Richter, A, Sparkes, R, Kojis, T, Watters, G and Der Kaloustian, V M (1994) U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. American Journal of Medical Genetics Part A 49 (4), pp. 384-387.

Full text not available from this repository.

at publisher (via DOI)

at PubMed


Abstract

A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1 → 12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using the chromosome specific probe y-19-1D (D85131), which maps to 8p21. Assay of cathepsin B, which has been localised to ...

plus


Export bibliographical data



Item type:Article
Date:1994
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1002/ajmg.1320490406DOI
8160729PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35464
Owner only: item control page
  1. Homepage UR

University Library

Publication Server

Contact:

Publishing: oa@ur.de

Dissertations: dissertationen@ur.de

Research data: daten@ur.de

Contact persons