✦ LIBER ✦

Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy

✍ Scribed by Sabine Langer; Jochen B. Geigl; Janine Wagenstaller; Gaby Lederer; Maja Hempel; Cornelia Daumer-Haas; Hans-Jürgen Leifheit; Michael R. Speicher

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 187 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31141

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

New case of interstitial deletion 12(q15

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

✍ Caroline Schluth; Roselyne Gesny; Guntram Borck; Richard Redon; Véronique Abadie 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 133 KB

A de novo 1.9-Mb interstitial deletion o

A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

✍ Keiko Shimojima; Kayoko Saito; Toshiyuki Yamamoto 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 256 KB 👁 1 views

A de novo 2.1-Mb deletion of 13q12.11 in

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features

✍ Vazken M. Der Kaloustian; Laura Russell; Swaroop Aradhya; Gabriele Richard; Bern 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 297 KB 👁 1 views

Deletion of 7q34–q36.2 in two siblings w

Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

✍ Line T. Sehested; Rikke S. Møller; Iben Bache; Noemi B. Andersen; Reinhard Ullma 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB

## Abstract We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial

11q14.1-11q22.1 deletion in a 1-year-old

11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features

✍ Ariana Kariminejad; Roxana Kariminejad; Andreas Tzschach; Hamid Najafi; Alischo 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 121 KB

Autistic and dysmorphic features associa

Autistic and dysmorphic features associated with a submicroscopic 2q33.3–q34 interstitial deletion detected by array comparative genomic hybridization

✍ Duane T. Brandau; Molly Lund; Linda D. Cooley; Warren G. Sanger; Merlin G. Butle 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 341 KB