A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9
β Scribed by Dutta, Usha R; Pidugu, Vijaya Kumar; Kalscheuer, Vera M; Dalal, Ashwin B
- Book ID
- 121565610
- Publisher
- BioMed Central
- Year
- 2014
- Tongue
- English
- Weight
- 71 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1755-8166
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
X inactivation is the process by which mammalian females achieve dosage compensation by transcriptionally silencing one X chromosome. In chromosomally normal females, this process is random. However, most females with one abnormal X chromosome demonstrate complete skewing of X inactivation, presumab
We present a 6-year-old girl with a balanced 11;20 translocation [46,XX,t(11;20)(q13.1; q13.13)patl, asplenia, pulmonic stenosis, Hirschsprung disease, minor anomalies, and mental retardation. This case represents the second report of an individual with situs abnormalities and a balanced chromosome