✦ LIBER ✦

Craniosynostosis: Another feature of the 22q11.2 deletion syndrome

✍ Scribed by Donna M. McDonald-McGinn; Karen W. Gripp; Richard E. Kirschner; Melissa K. Maisenbacher; Virginia Hustead; Galen M. Schauer; Kim M. Keppler-Noreuil; Karen L. Ciprero; Patrick Pasquariello Jr.; Don LaRossa; Scott P. Bartlett; Linton A. Whitaker; Elaine H. Zackai

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 200 KB
Volume: 136A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30746

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mosaicism del(22)(q11.2q11.2)/dup(22)(q1

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

✍ Melissa A. Dempsey; Stuart Schwartz; Darrel J. Waggoner 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 views

Clinical features of 78 adults with 22q1

Clinical features of 78 adults with 22q11 deletion syndrome

✍ Anne S. Bassett; Eva W.C. Chow; Janice Husted; Rosanna Weksberg; Oana Caluseriu; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB

PRENATAL DIAGNOSIS OF THE 22q11 DELETION

PRENATAL DIAGNOSIS OF THE 22q11 DELETION SYNDROME

✍ ALEXANDER DAVIDSON; MEENA KHANDELWAL; HOPE H. PUNNETT 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 210 KB 👁 1 views

A 27 weeks' gestation fetus, evaluated because of polyhydramnios, was found by echocardiography to have an interrupted aortic arch type B. Because of the known association between this malformation and DiGeorge syndrome, an amniocentesis was performed. Fluorescence in situ hybridization revealed a 2

Opitz GBBB syndrome and the 22q11.2 dele

Opitz GBBB syndrome and the 22q11.2 deletion

✍ Lacassie, Yves; Arriaza, Marta I. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 2 views

Letter to the Editor ## Opitz GBBB Syndrome and the 22q11.2 Deletion To the Editor: Recently, McDonald-McGinn et al. [1995] reported the presence of a deletion 22q11.2 in a family with autosomal dominant inheritance and in a sporadic case with the Opitz GBBB syndrome.The presence of a vascular r

Nasal dimple as part of the 22q11.2 dele

Nasal dimple as part of the 22q11.2 deletion syndrome

✍ Gripp, Karen W.; McDonald-McGinn, Donna M.; Driscoll, Deborah A.; Reed, Lori A.; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 401 KB

The phenotype of the 22q11.2 microdeletion syndrome is quite variable. We describe 2 patients with a 22q11.2 deletion and a dimpled nasal tip, which, we suggest can be the extreme of the broad or bulbous nose commonly found in the 22q11.2 deletion syndrome, and should not be confused with the more s

Sclerocornea associated with the chromos

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

✍ Gil Binenbaum; Donna M. McDonald-McGinn; Elaine H. Zackai; B. Michael Walker; Ka 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB 👁 1 views