We report a case of mosaic trisomy 20, the most common autosomal mosaicism identified in amniocytes, ascertained in a woman referred for amniocentesis because of abnormal ultrasound at 18.1 weeks' gestation which revealed short femurs and nuchal thickening. Metaphase analysis of 98 clones revealed 4
Low-level mosaicism of trisomy 14: Phenotypic and molecular characterization
β Scribed by Marwan Shinawi; Lina Shao; Linda Jo Bone Jeng; Chad A. Shaw; Ankita Patel; Carlos Bacino; Vernon R. Sutton; John Belmont; Sau Wai Cheung
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 334 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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Somatic mosaicism is a frequent phenomenon in mendelian disorders that exhibit a high proportion of new mutations; however, mutant alleles present at low frequency are difficult to detect and characterize. We have previously shown that denaturing high-performance liquid chromatography (DHPLC) can de
## Abstract The unstable, geneβrich chromosome region 17p11.2βp12 is associated with various structural aberrations including supernumerary marker chromosomes (SMCs). In some cases, SMC(17)s utilize the same substrates for recombination as the common recurrent 17p11.2 and 17p12 rearrangements. We r