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Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6

✍ Scribed by Toshiyuki Yamamoto; Keiko Shimojima; Tsutomu Nishizawa; Mari Matsuo; Masahiro Ito; Katsumi Imai


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
277 KB
Volume
155
Category
Article
ISSN
1552-4825

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Patient with a 22q11.2 deletion with no
✍ McQuade, Leon; Christodoulou, John; Budarf, Marcia; Sachdev, Rani; Wilson, Mered 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 3 views

The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 ## Mb chromosomal deletion that includes the mini