Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

Abstract

DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. The critical DGS2 region is defined by two DGS patients, and maps within a 1 cM interval including D10S547 and D10S585. The other seven DGS patients are hemizygous for both loci. The breakpoint of the reciprocal translocation 10p;14q maps at a distance of at least 12 cM distal to the critical DGS2 region. Interstitial and terminal deletions described are in the range of 10–50 cM and enable the tentative mapping of loci for ptosis and hearing loss, features which are not part of the DGS clinical spectrum.

DOI: 10.1038/sj.ejhg.5200183

4 Figures and Tables

02040'01'03'05'07'09'11'13'15'17
Citations per Year

190 Citations

Semantic Scholar estimates that this publication has 190 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Schuffenhauer1998DeletionMO, title={Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)}, author={Simone Schuffenhauer and Peter C. Lichtner and Popak Peykar-Derakhshandeh and J. D. Murken and Oskar Arthur Haas and Elke Back and Gerhard Wolff and Bernhard Zabel and Ingeborg Bari{\vs}i{\'c} and Anita Rauch and Zvi U. Borochowitz and Bruno Dallapiccola and Mark Ross and Thomas Meitinger}, journal={European Journal of Human Genetics}, year={1998}, volume={6}, pages={213-225} }