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A case of Down's syndrome resulting from mirror duplication of chromosome 21

✍ Scribed by Claude Stoll; A. Pennerath; Ch. Lausecker

Publisher
Springer
Year
1982
Tongue
English
Weight
494 KB
Volume
138
Category
Article
ISSN
0340-6997

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πŸ“œ SIMILAR VOLUMES

Mirror-symmetric duplicated chromosome 2
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype
✍ Barbi, G.; Kennerknecht, I.; WοΏ½hr, G.; Avramopoulos, D.; Karadima, G.; Petersen, πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 46 KB πŸ‘ 2 views

We report on a mentally retarded child with multiple minor anomalies and an unusually rearranged chromosome 21. This der(21) chromosome has a deletion of 21p and of proximal 21q, whereas the main portion of 21q is duplicated leading to a mirrorsymmetric appearance with the mirror axis at the breakpo