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Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8

✍ Scribed by Isabel Filges; Benno Röthlisberger; Friedel Wenzel; Karl Heinimann; Andreas R. Huber; Peter Miny


Book ID
101449163
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
152 KB
Volume
146A
Category
Article
ISSN
1552-4825

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W e report on a live-born infant with mosaicism of tetraploidy and trisomy 8 who had craniofacial abnormalities, cardiac and genitourinary defects, agenesis of the carpus callosum, and anomalies of limbs. The infant died at age 14 weeks. Molecular studies were done on peripheral blood lymphocytes an