A case of Down's syndrome resulting from mirror duplication of chromosome 21 |
| |
| Authors: | Claude Stoll A. Pennerath Ch. Lausecker |
| |
| Affiliation: | (1) Institut de Puériculture, Hôpital Civil, F-67000 Strasbourg, France;(2) Service de Pédiatrie A, Hôpital Pasteur, F-68000 Colmar, France |
| |
| Abstract: | Cytogenetic analysis of a 1-month-old boy with a phenotype similar to that typical for Down's syndrome revealed 46 chromosomes with a mirror duplication of chromosome 21. SOD-1 concentration was increased. |
| |
| Keywords: | Down's syndrome Translocation Chromosome |
| 本文献已被 PubMed SpringerLink 等数据库收录！ |
