𝔖 Bobbio Scriptorium
✦   LIBER   ✦

De novo microduplication at 22q11.21 in a patient with VACTERL association

✍ Scribed by Charlotte Schramm; Markus Draaken; Enrika Bartels; Thomas M. Boemers; Stefan Aretz; Felix F. Brockschmidt; Markus M. Nöthen; Michael Ludwig; Heiko Reutter


Book ID
116433306
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
660 KB
Volume
54
Category
Article
ISSN
1769-7212

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Craniosynostosis in a patient with a de
✍ Yoko Hiraki; Miyuki Moriuchi; Nobuhiko Okamoto; Nobutsune Ishikawa; Yosuke Sugim 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 134 KB 👁 2 views

## Abstract Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. Here another case of a 15q15.2‐q22.2 deletion is reported, presenting with severe craniosynostosis of coronary, metopic, and sagittal sutures. The chromosome 15 wit

A patient with a de novo distal 22q11.2
✍ Willem Verhoeven; Jos Egger; Han Brunner; Nicole de Leeuw 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 455 KB 👁 3 views

## Abstract We report on a young female with normal intelligence evaluated for long‐term anxiety. Her history includes prematurity, neonatal feeding problems, surgical correction of congenital heart defects, recurrent upper airway and urinary tract infections, and delayed motor and developmental mi

De novo balanced translocation (6;18)(q2
✍ Kato, Rumiko; Yamada, Yutaka; Niikawa, Norio 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB 👁 1 views

We report on a sporadic case of heterotaxia with a de novo chromosome structural abnormality. The patient had inversely located heart (dextrocardia), stomach, duodenum, and cecum. In addition, she had cerebral atrophy, hypertelorism with telecanthus, infraorbital skin furrows, ear-lobe grooves, prom