✦ LIBER ✦

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion

✍ Scribed by Erica H. Gerkes; Roel Hordijk; Trijnie Dijkhuizen; Deborah A. Sival; Linda C. Meiners; Birgit Sikkema-Raddatz; Conny M.A. van Ravenswaaij-Arts

Book ID: 116433269
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 504 KB
Volume: 53
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2010.05.003

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

Polymicrogyria in a child with inv dup d

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

✍ A.L. Mosca; P. Callier; L. Faivre; N. Marle; N. Mejean; C. Thauvin-Robinet; A. M 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB 👁 1 views

## Abstract Polymicrogyria (PMG) is a relatively common malformation of the cortex for which the pathogenesis remains poorly understood. Both acquired and genetic causes are known, and to date more than 70 cases of PMG have been associated with chromosomal abnormalities. Here we report on a 12‐year

A child with chromosome 22q11.2 deletion

A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder

✍ James R. Clarke; Matthias H. Schmidt; Marian B. Macken; Charlotte Morley; Elizab 📂 Article 📅 2006 🏛 Springer-Verlag 🌐 English ⚖ 149 KB

Polymicrogyria and deletion 22q11.2 synd

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

✍ Nathaniel H. Robin; Clare J. Taylor; Donna M. McDonald-McGinn; Elaine H. Zackai; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 331 KB 👁 2 views

A novel 5q11.2 deletion detected by micr

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome

✍ Katrina Prescott; Kathryn Woodfine; Paula Stubbs; Maurice Super; Bronwyn Kerr; R 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 374 KB

Hematological abnormalities in a patient

Hematological abnormalities in a patient with a 22q11.2 deletion

✍ Mariko Saito; Tatsuya Ishikawa; Yoshinori Ito; Hideo Shimizu 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 111 KB