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Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication

✍ Scribed by Gentile, M. ;Wuyts, W. ;Grittani, S. ;Di Carlo, A. ;Cariola, F. ;Verdyck, P. ;Margari, L. ;Perniola, T. ;Buonadonna, A.L.

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
192 KB
Volume
127A
Category
Article
ISSN
0148-7299

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## Abstract Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12‐year‐old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo].