Published January 1, 2021
| Version v1
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Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations
Creators
- 1. Karadeniz Tech Univ, Dept Med Biol, Fac Med, TR-61080 Trabzon, Turkey
- 2. Karadeniz Tech Univ, Child & Adolescent Psychiat Dept, Fac Med, Trabzon, Turkey
- 3. Yildirim Beyazit Univ, Fac Med, Child & Adolescent Psychiat Dept, Ankara, Turkey
- 4. Ankara City Hosp, Minist Hlth, Child Adolescent & Mental Hlth, Ankara, Turkey
- 5. Acibadem Mehmet Ali Aydinlar Univ, Inst Hlth Sci, Dept Biostat & Bioinformat, Istanbul, Turkey
- 6. Sabanci Univ, Fac Engn & Nat Sci Mol Biol Genet & Bio Engn, Istanbul, Turkey
- 7. Karadeniz Tech Univ, Grad Sch Hlth Sci, Biostat & Med Informat Dept, Trabzon, Turkey
- 8. Karadeniz Tech Univ, Grad Sch Hlth Sci, Med Biol Dept, Trabzon, Turkey
Description
Background Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers with respect to identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases. In the present study, we aimed to idenitfy the causative genetic factors in patients with ASD who have an apparently balanced chromosomal translocation in their karyotypes.
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