✦ LIBER ✦

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literature

✍ Scribed by Leana-Cox, Julie; Pangkanon, Suthipong; Eanet, Karen R.; Curtin, Martha S.; Wulfsberg, Eric A.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 754 KB
Volume: 65
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961111)65:4<309::aid-ajmg12>3.0.co;2-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Is the autosomal dominant Opitz GBBB syn

Is the autosomal dominant Opitz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?

✍ Wulfsberg, Eric A. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB 👁 3 views

DiGeorge/velocardiofacial syndrome: FISH

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

✍ Oliver Bartsch; Michaela Nemecková; Eduard Kocárek; Annett Wagner; Alena Puchmaj 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB 👁 2 views

Seven new cases of cayler cardiofacial s

Seven new cases of cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case

✍ Bawle, Erawati V.; Conard, Joan; Van Dyke, Daniel L.; Czarnecki, Paula; Driscoll 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

of Cases With Asymmetric Crying Face and del(22)(q11.2) Detected by FISH Age Case 1 9 years Case 2 4 weeks Case 3 3 years Case 4 24 years Case 5 e 3 years Case 6 2 weeks Case 7 Normal a VPI, velopalatal insufficiency. b DAOM: Depressor Anguli Oris Muscle. c VSD, ventricular septal defect. d All show

Phenotype of adults with the 22q11 delet

Phenotype of adults with the 22q11 deletion syndrome: A review

✍ Cohen, Eyal; Chow, Eva W. C.; Weksberg, Rosanna; Bassett, Anne S. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 3 views

22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age ≥18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22

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

Report of another family with Simpson-Go

Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature

✍ Garganta, Cheryl L. ;Bodurtha, Joann N. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 635 KB