𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

✍ Scribed by Beverly S. Emanuel

Publisher
Wiley (John Wiley & Sons)
Year
2008
Tongue
English
Weight
279 KB
Volume
14
Category
Article
ISSN
1940-5510

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Novel rearrangement of chromosome band 2
Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney
✍ R. Wieser; B. Fritz; R. Ullmann; I. MΓΌller; M. Galhuber; C.T. Storlazzi; A. Rama πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 304 KB

## Communicated by Riccardo Fodde The 22q11.2 microdeletion syndrome is the most frequent microdeletion syndrome in humans, yet its genetic basis is complex and is still not fully understood. Most patients harbor a 3-Mb deletion (typically deleted region [TDR]), but occasionally patients with atypi

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

Variable phenotype and associations in c
Variable phenotype and associations in chromosome 22q11.2 microdeletion
✍ Murat Derbent; Yunus Emre Bikmaz; Zerrin Yilmaz; Kursad Tokel πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 56 KB πŸ‘ 2 views

entitled ''Co-occurrence of Chromosome 22q11.2 Microdeletion and Trisomy 21 Mosaicism.'' We thank the authors for their informative remarks about this association, but would like to point out that we definitely do not recommend investigating for chromosome 22q11.2 microdeletion (del22q11.2) in all c

De novo tandem duplication of chromosome
De novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization
✍ Lindsay, Elizabeth A. ;Shaffer, Lisa G. ;Carrozzo, Romeo ;Greenberg, Frank ;Bald πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 446 KB πŸ‘ 1 views

We report on a case of duplication of the segment 22qll-12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D2224, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker pro