TY - JOUR
T1 - Physical mapping by FISH of the DiGeorge Critical Region (DGCR)
T2 - Involvement of the region in familial cases
AU - Desmaze, C.
AU - Prieur, M.
AU - Amblard, F.
AU - Aikem, M.
AU - LeDeist, F.
AU - Demczuk, S.
AU - Zucman, J.
AU - Plougastel, B.
AU - Delattre, O.
AU - Croquette, M. F.
AU - Breviere, G. M.
AU - Huon, C.
AU - Le Merrer, M.
AU - Mathieu, M.
AU - Sidi, D.
AU - Stephan, J. L.
AU - Aurias, A.
PY - 1993/12
Y1 - 1993/12
N2 - We describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and translocation breakpoints in the DiGeorge syndrome (DGS) critical region of chromosome 22. This physical map enables us to define a large region, commonly deleted in a majority of affected patients, and the smallest deleted region which, when lost, is sufficient to produce DGS. In four instances, a similar large deleted region is observed in a familial context. In these pedigrees, the deletion is encountered in one parent with mild features of the disease.
AB - We describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and translocation breakpoints in the DiGeorge syndrome (DGS) critical region of chromosome 22. This physical map enables us to define a large region, commonly deleted in a majority of affected patients, and the smallest deleted region which, when lost, is sufficient to produce DGS. In four instances, a similar large deleted region is observed in a familial context. In these pedigrees, the deletion is encountered in one parent with mild features of the disease.
UR - http://www.scopus.com/inward/record.url?scp=0027359791&partnerID=8YFLogxK
M3 - Article
C2 - 8250039
AN - SCOPUS:0027359791
SN - 0002-9297
VL - 53
SP - 1239
EP - 1249
JO - American journal of human genetics
JF - American journal of human genetics
IS - 6
ER -