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Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis

✍ Scribed by Patricia Gargallo; Anne Hagemeijer; Patricia Vassallu; Laura Kornblihtt; Paula Heller; Felisa Molinas; Irene Larripa


Book ID
113512426
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
250 KB
Volume
154
Category
Article
ISSN
0165-4608

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Interstitial deletion of chromosome 4, d
✍ Fujimoto, Atsuko; Reddy, Kavita S.; Spinks, Randy πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 22 KB πŸ‘ 1 views

A 17-year-old boy who was diagnosed with ''Waardenburg syndrome'' showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a chromosome 8. The rearrangement was confirmed to be