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Contribution to the 18q- syndrome. A patient with del (18) (q22.3qter)

✍ Scribed by I. Felding; U. Kristoffersson; H. Sjöström; O. Norén


Book ID
115089571
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
511 KB
Volume
31
Category
Article
ISSN
0009-9163

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Monosomy 18q syndrome and atypical Rett
✍ Gustavsson, Peter; Kimber, Eva; Wahlstr�m, Jan; Anner�n, G�ran 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 3 views

We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin