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22q11 deletion syndrome – the meaning of a diagnosis. A qualitative study on parental perspectives

✍ Scribed by U. Hallberg; S. Óskarsdóttir; G. Klingberg


Book ID
108681145
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
120 KB
Volume
36
Category
Article
ISSN
0305-1862

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Phenotype of adults with the 22q11 delet
✍ Cohen, Eyal; Chow, Eva W. C.; Weksberg, Rosanna; Bassett, Anne S. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 3 views

22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age ≥18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22