A case of 15q11-q13 duplication syndrome and literature review.

ABSTRACT:

Background

The chromosomal 15q11-q13 regions are structurally complex, and their abnormalities are associated with various neuropsychiatric disorders, including autism spectrum disorder (ASD), epilepsy, Angelman syndrome, and Prader-Willi syndrome.

Case description

A 6-year-old child was admitted to the hospital as a result of an "epileptic status" showing ASD, intractable epilepsy, and total developmental retardation. Chromosome gene detection showed repetitive variation in the 15q11-q13 regions, and the video electroencephalogram was abnormal. Although children are currently given antiepileptic treatment and rehabilitation training, intermittent seizures can still occur.

Conclusion

The clinical phenotypes of 15q11-q13 repetitive syndrome are complex, and vary in sev

SUBMITTER: Fu Z 

PROVIDER: S-EPMC8413793 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature