Genotype–phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects
✍ Scribed by Seungok Lee; Hyojin Chae; In Yang Park; Myungshin Kim; Yonggoo Kim; Jong Chul Shin; Juyoung Lee; Jungok Son
- Book ID
- 116508638
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 500 KB
- Volume
- 494
- Category
- Article
- ISSN
- 0378-1119
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract The deletion 18p syndrome is one of the most common chromosome abnormalities. The medical problems are mental and postnatal growth retardation, and sometimes malformations of the heart and brain. The individuals have some typical features, which might be easy to overlook and which are:
Genotype-phenotype correlation was originally attempted by Miyake et al. [2004] and refined by Failla et al. [2008] based on a 4.5 Mb deleted segment shared by three affected individuals. These three individuals had in common psychomotor and growth retardation, disturbance in extraocular motility, p
## Abstract Microdeletions of the 2q31.1 region are rare. We present the clinical and molecular findings of eight previously unreported patients with overlapping deletions in 2q31.1. The patients have a variable clinical phenotype and present with developmental delay (7/8), growth retardation (5/8)