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The common features of patients with partial trisomy of the long arm of chromosome 1

✍ Scribed by R. Gfatter; F. Braun; W. Schnedl


Book ID
110887823
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
483 KB
Volume
54
Category
Article
ISSN
0009-9163

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We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a ''carp'' mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is