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Mirror duplication of chromosome 21 with complete phenotype of Down syndrome

✍ Scribed by Masanori Egashira; Tatsuro Kondoh; Hiroki Kawara; Hideki Motomura; Masato Tagawa; Naoki Harada; Hiroyuki Moriuchi

Book ID
108972571
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
110 KB
Volume
50
Category
Article
ISSN
1328-8067

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Mirror-symmetric duplicated chromosome 2
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✍ 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