12q12 deletion: A new patient contributing to genotype–phenotype correlation
✍ Scribed by Pinella Failla; Corrado Romano; Santina Reitano; Daniela Di Benedetto; Lucia Grillo; Marco Fichera; Lucia Castiglia
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 121 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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)
Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unr