Duplication 20p identified via fluorescent in situ hybridization
โ Scribed by LeChien, Kay A. ;McPherson, Elizabeth ;Estop, Anna M.
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 291 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
We present a patient with multiple anomalies and severe developmental delay. A small supernumerary ring chromosome was found in 40% of her lymphocyte cells at birth. The origin of the marker chromosome could not be determined by GTG banding, but fluorescent in situ hybridization (FISH) later identif
We present a 16-month-old boy with developmental delay, minor anomalies, small penis, and lymphedema of the upper limbs. Routine cytogenetic analysis suspected a duplication of 5q. Fluorescent in situ hybridization (FISH) with a cosmid probe (MCC at the 5q22 APC region) showed tandemly duplicated fl