Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome) |
| |
| Authors: | J. M. Delabar P. M. Sinet Bernadette Chadefaux Annie Nicole Anne Gegonne D. Stehelin Françoise Fridlansky Nicole Créau-Goldberg Catherine Turleau J. de Grouchy |
| |
| Affiliation: | (1) Laboratoire de Biochimie Génétique, J.E. 34623 CNRS, 149 rue de Sèvres, F-75743 Paris Cedex 15, France;(2) U.173 INSERM-UA.119 CNRS, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, F-75743 Paris Cedex 15, France;(3) U. 186 INSERM, Institut Pasteur, 15, rue Camille Guérin, F-59019 Lille Cedex, France;(4) U. 135 INSERM, Hôpital de Bicêtre, 78, rue de Général Leclerc, F-94270 Le Kremlin Bicêtre, France |
| |
| Abstract: | Summary A patient with the phenotype of trisomy 21 (Down syndrome) was found to have a normal karyotype in blood lymphocytes and fibroblasts. Assessment of the chromosome 21 markers SOD1, CBS, ETS2, D21S11, and BCEI showed partial trisomy by duplication of a chromosome segment carrying the SOD1, CBS, and ETS2 loci and flanked by the BCEI and D21S11 loci, which are not duplicated. This submicroscopic duplication at the interface of 21q21 and 21q22.1 reduces to about 2000–3000kb the critical segment the trisomy of which is responsible for the phenotype of trisomy 21. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
