Medicine:3p deletion syndrome
From HandWiki
Short description: Medical condition
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
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/23613140/.
- ↑ 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. PMID 33643973.
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