𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

✍ Scribed by Derbent, Murat ;Y?lmaz, Zerrin ;Baltac?, Volkan ;Sayg?l?, Arda ;Varan, Birg�l ;Tokel, K�r?at

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
175 KB
Volume
116A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

22q11.2 deletion mosaicism in patients w
22q11.2 deletion mosaicism in patients with conotruncal heart defects
✍ Li Jianrong; Liu Yinglong; Lv Xiaodong; Yu Cuntao; Cui Bin; Wei Bo 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 1 views

## Abstract ## BACKGROUND Some patients with conotruncal heart defects (CTDs) have a chromosome 22q11.2 deletion, but we do not know whether patients with CTDs who are missing the peripheral blood‐cell chromosome 22q11.2 deletion are also missing the 22q11.2 deletion in myocardial cells, and wheth

Type I diabetes mellitus in a patient wi
Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome
✍ Elder, Deborah A. ;Kaiser-Rogers, Kathleen ;Aylsworth, Arthur S. ;Calikoglu, Ali 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB 👁 1 views

We describe a patient with type I diabetes, clinical ®ndings consistent with velocardiofacial syndrome, and a chromosome 22q11.2 deletion. A nine-year-old boy presented with a history of polyuria, polydipsia, weight loss, hyperglycemia, ketosis, serum insulin antibodies, and a low C-peptide level. H