𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Velopharyngeal incompetence and chromosome 22q11 deletion

✍ Scribed by John G Boorman; Sanjay Varma; Caroline Mackie Ogilvie

Book ID
117276575
Publisher
The Lancet
Year
2001
Tongue
English
Weight
48 KB
Volume
357
Category
Article
ISSN
0140-6736

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Deletion of chromosome 22q11 and pseudoh
Deletion of chromosome 22q11 and pseudohypoparathyroidism
✍ Craigen, William J.; Lindsay, Elizabeth A.; Bricker, J. Timothy; Hawkins, Edith πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 5 KB πŸ‘ 3 views

A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, cons

Familial deletions of chromosome 22q11
Familial deletions of chromosome 22q11
✍ Digilio, Maria Cristina; Marino, Bruno; Giannotti, Aldo; Dallapiccola, Bruno πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 7 KB πŸ‘ 2 views

We read with interest the paper by Leana-Cox et al. [1996] which reported on 5 families with recurrent Di-George/velocardiofacial syndrome and deletions of chromosome 22q11 (del22q11), and which reviewed the pertinent literature. The authors observed that up to 25% of del22q11 are inherited. Particu

Prevalence of 22q11 region deletions in
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency
✍ Zori, Roberto T.; Boyar, Fatih Z.; Williams, William N.; Gray, Brian A.; Bent-Wi πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 3 views

## Velo -cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency