A new strategy for the detection of subtelomeric rearrangements
β Scribed by Christine Fauth; Hongen Zhang; Stephanie Harabacz; Jill Brown; Kaan Saracoglu; Gaby Lederer; Olaf Rittinger; Imma Rost; Roland Eils; Lyndal Kearney; Michael R. Speicher
- Book ID
- 106133591
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 197 KB
- Volume
- 109
- Category
- Article
- ISSN
- 0340-6717
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In recent years, subtelomeric rearrangements, e.g., chromosome deletions or duplications too small to be detected by conventional cytogenetic analysis, have emerged as a significant cause of both idiopathic and familial mental retardation. As mental retardation is a common disorder, many patients ne
Two sisters presented with multiple congenital abnormalities and developmental delay; abnormalities elsewhere in their extended family suggested that their father carried a balanced translocation. G-banded chromosome analysis showed apparently normal karyotypes. Fluorescence in situ hybridisation (F