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3p deletion and (skewed) literature review

✍ Scribed by Horacio Rivera


Book ID
101455071
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
43 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Reply to 3p deletion and (skewed) litera
✍ Thomas V. Fernandez; Matthew W. State; Nory O. Davalos-Rodriguez πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 47 KB

In our recent report of a patient with 3p deletion syndrome and associated review of syndromic distal 3p deletions [Fernandez et al., 2008], we focused on the mounting evidence for a minimal critical region associated with the phenotype that includes the gene CNTN4. In the literature review, we cite

Holoprosencephaly: Association with inte
✍ MΓΌnke, Maximilian ;Emanuel, Beverly S. ;Zackai, Elaine H. πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 631 KB

Chromosome analysis with high-resolution banding showed a small de novo interstitial deletion of chromosome 2(p21 -p22.2) in an infant with holoprosencephaly. This is the first such observation. There is a well-known association with abnormalities of chromosome 13 (most commonly trisomy 13, but also