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Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21

โœ Scribed by Kim M Keppler-Noreuil; Judy L Welch; Heather J Major; Q Qiau; Diane K Jordan


Book ID
111129588
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
70 KB
Volume
44
Category
Article
ISSN
0012-1622

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Mirror-symmetric duplicated chromosome 2
โœ Barbi, G.; Kennerknecht, I.; W๏ฟฝhr, G.; Avramopoulos, D.; Karadima, G.; Petersen, ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 46 KB ๐Ÿ‘ 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