Autism spectrum disorder in a patient with genetic mosaicism: case report
DOI:
https://doi.org/10.25118/2236-918X-7-5-5Keywords:
Autism, mosaicism, chromosomesAbstract
The present report describes the case of a patient with autism spectrum disorder (ASD) associated with 46XY mosaicism, a rare and scarcely studied condition. The authors describe patient evolution and discuss the literature on chromosomal abnormalities associated with ASD. They conclude emphasizing that clinical evaluation of each case of ASD should cover neurological, psychiatric, and genetic aspects.
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American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). Arlington: American Psychiatric Publishing; 2013.
Coutinho JVSC, Bosso RM do V. Autismo e genética: uma revisão de literatura [Internet]. Rev Cient ITPAC. 2015;8. [cited 2016 Aug 26]. www. itpac.br/arquivos/Revista/76/Artigo_4.pdf
Saffen D. The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants. Sci China Life Sci. 2015;58:968-75.
Paulo Jd, Andrade JG, Santos AP, Gil-da-Silva-Lopes VL, Guerra-Júnior G, Maciel-Guerra AT. [The use of FISH on buccal smear to investigate mosaicism with a 45,X cell line: study on healthy men and patients with disorders of sex development]. Arq Bras Endocrinol Metabol. 2014;58:328-34.
Rybakowski F, Chojnicka I, Dziechciarz P, Horvath A, Janas-Kozik M, Jeziorek A, et al. The role of genetic factors and pre – and perinatal influences in the etiology of autism spectrum disorders – indications for genetic referral. Psychiatr Pol. 2016;50:543-54.
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