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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Classical Noonan syndrome is not associated with deletions of 22q11.

Deletions of 22q11 cause DiGeorge sequence ( DGS), velo-cardio-facial syndrome (VCFS), conotruncal anomaly face syndrome, and some isolated conotruncal heart anomalies. Demonstration of a 22q11 deletion in a patient with manifestations of DGS and Noonan syndrome (NS) has raised the question of whether NS is another of the chromosome 22 microdeletion syndromes. This prompted us to evaluate a cohort of patients with NS for evidence of 22q11 deletions. Five of 6 NS propositi studied in our laboratory with marker N25 (D22S75) did not have a 22q11 deletion. A 2-month-old infant with several findings suggestive of NS did have a 22q11 deletion, suggesting that a small number of 22q11 deletion propositi may present with a NS-like picture. However, most cases of NS must have another cause.[1]

References

  1. Classical Noonan syndrome is not associated with deletions of 22q11. Robin, N.H., Sellinger, B., McDonald-McGinn, D., Zackai, E.H., Emanuel, B.S., Driscoll, D.A. Am. J. Med. Genet. (1995) [Pubmed]
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