✦ LIBER ✦

A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients

✍ Scribed by Robert P. Erickson; Teresita Díaz de Ståhl; Carl E.G. Bruder; Jan P. Dumanski

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 298 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32025

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Opitz “C” trigonocephaly-like syndrome i

Opitz “C” trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q

✍ Márta Czakó; Mariluce Riegel; Éva Morava; Katalin Bajnóczky; György Kosztolányi 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 2 views

Patient with a 22q11.2 deletion with no

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)

✍ 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

Interstitial deletion 9q22.32-q33.2 asso

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail-Patella syndrome

✍ Alina T. Midro; Barbara Panasiuk; Zeynep Tümer; Paweł Stankiewicz; Asli Silahtar 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 463 KB 👁 1 views