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Novel airway findings in a patient with 1p36 deletion syndrome

โœ Scribed by Ferril, Geoffrey R.; Barham, Henry P.; Prager, Jeremy D.


Book ID
123456037
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
348 KB
Volume
78
Category
Article
ISSN
0165-5876

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Mosaicism for deletion 1p36.33 in a pati
โœ Eugster, Erica A.; Berry, Susan A.; Hirsch, Betsy ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 371 KB ๐Ÿ‘ 1 views

We report on a 4-year-old girl with obesity and hyperphagia whose peripheral blood cytogenetic analysis showed mosaicism for a deletion of band 1p36.33. Terminal 1p deletions are rarely reported and this patient represents the first identified case of mosaicism. Given the subtlety of the cytogenetic