We report the prenatal exclusion of partial trisomy in a family with maternal pericentric inversion of chromosome 21 by fluorescence in situ hybridization (FISH). After determining the structural rearrangement in the mother and her affected son with 46,XY,rec(21)dup(21q)inv(21)(p11q22) resulting in
Prenatal exclusion of subtelomeric deletion 1p by fluorescent in situ hybridization
β Scribed by Vorapong Phupong; Verayuth Praphanphoj; Vorasuk Shotelersuk
- Book ID
- 106080303
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 258 KB
- Volume
- 275
- Category
- Article
- ISSN
- 0003-9128
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Charcot-Marie-Tooth Disease (CMT) is the most common cause of peripheral neuropathy, with an incidence of 1:2500 persons affected. Previously, we reported the use of fluorescence in situ hybridization (FISH) to detect the common submicroscopic duplication of 17p12 found in more than 98 per cent of i
## BACKGROUND. Atypical and anaplastic meningiomas tend to recur and to invade adjacent brain, bone, and skin. They also can metastasize to extracranial organs such as the lung, liver, or bone, causing death. Recent reports have indicated that allelic deletion of chromosome 1p is associated with m
In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In the ten patients, a microdeletion was demonstrated by in situ hybridization, but suspected