3p deletion syndrome

3p deletion syndrome is a rare genetic disorder caused by the deletion of small fragments of chromosome 3.[1]

Presentation

Reports symptoms in patients with 3p deletion syndrome are intellectual disability, delayed psychomotor development, abnormal facial features, muscular hypotonia, epilepsy, and deformation of the gastrointestinal and urinary tracts.[2]

Clinical phenotypes are often considerably mild, and genetic testing is required for diagnosis.

References

  1. ↑ Kellogg, Gregory; Sum, John; Wallerstein, Robert (June 2013). "Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region". American Journal of Medical Genetics. Part A. 161A (6): 1405–1408. doi:10.1002/ajmg.a.35876. ISSN 1552-4833. PMID 23613140. S2CID 898534.
  2. ↑ Fu, Junxian; Wang, Ting; Fu, Zhuo; Li, Tianxia; Zhang, Xiaomeng; Zhao, Jingjing; Yang, Guanglu (2021-02-10). "Case Report: A Case Report and Literature Review of 3p Deletion Syndrome". Frontiers in Pediatrics. 9: 618059. doi:10.3389/fped.2021.618059. ISSN 2296-2360. PMC 7902511. PMID 33643973.
This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.