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De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia

✍ Scribed by Nicola Brunetti-Perri; Ankita Patel; Chester W. Brown; Ronald A. Rauch; Rubina A. Heptulla


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
196 KB
Volume
149A
Category
Article
ISSN
1552-4825

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Deletion 4q21/4q22 syndrome: Two patient
✍ Nowaczyk, M. J. M.; Teshima, I. E.; Siegel-Bartelt, J.; Clarke, J. T. R. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 600 KB

We report on 2 patients with de novo proximal interstitial deletions of the long arm of chromosome 4: in one the deletion resulted in monosomy (4)(q21.3q23), in the other it produced monosomy (4)(q13.2q23). Review of 9 cases of deletions involving the 4q21/ 4q22 region reported previously detected a