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De novo partial 2p duplication with postmortem description

โœ Scribed by Monteleone, P. L. ;Blair, J. D. ;Graviss, E. R. ;Chen, Su-Chiung ;Salvador, A. ;Grzegocki, J. A. ;Monteleone, J. A. ;Francke, Uta

Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
428 KB
Volume
10
Category
Article
ISSN
0148-7299

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De novo partial duplications 1p: Report
De novo partial duplications 1p: Report of two new cases and review
โœ Garcia-Heras, Jaime; Corley, Norlela; Garcia, Mary F.; Kukolich, Mary K.; Smith, ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 22 KB ๐Ÿ‘ 3 views

We describe two de novo intrachromosomal duplications of 1p. One case is a dir ins dup(1)(q21p21p31) in a newborn girl with low birth weight, growth retardation, and tetralogy of Fallot. The other is a 10-monthold girl with developmental delay, craniosynostosis, plagiocephaly, and an inv dup 1p34.1p