Τίτλος:
Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, anxiety and depression were observed clinical characteristics. Mentioned copy number variants were the shortest in length reported so far. The current study hypothesized that the presence of a susceptibility locus for autism spectrum disorder associated with depression and anxiety may be located in a 200 kb region between the PCNT and PRMT2 genes. The current study aimed to provide insight into the human genome morbidity map of chromosome 21. © 2019, Spandidos Publications. All rights reserved.
Συγγραφείς:
Orru, S.
Papoulidis, I.
Siomou, E.
Papadimitriou, D.T.
Sotiriou, S.
Nikolaidis, P.
Eleftheriades, M.
Papanikolaou, E.
Thomaidis, L.
Manolakos, E.
Περιοδικό:
Biomedical Reports
Εκδότης:
Spandidos Publications
Λέξεις-κλειδιά:
corticotropin; follitropin; growth hormone; luteinizing hormone; oligonucleotide; pericentrin; phytohemagglutinin; prmt2 protein; prolactin; protein; thymidine; unclassified drug, aneuploidy; anxiety disorder; Article; autism; birth weight; body height; body weight; bone age; case report; cesarean section; child; chromosome 21; chromosome 21q; chromosome 21q22.3; chromosome analysis; clinical article; clinical assessment; clinical evaluation; clinical feature; clinodactyly; comparative genomic hybridization; copy number variation; depression; disease association; disease severity; DSM-5; echography; electroencephalogram; face dysmorphia; frontal bossing; gene deletion; gene duplication; gene locus; genetic counseling; genetic susceptibility; head circumference; hepatography; human; human genome; intelligence; karyotyping; laboratory test; learning disorder; long philtrum; male; medical history; metaphase chromosome; microcephaly; morbidity; muscle hypotonia; neurologic examination; nipple; nuclear magnetic resonance imaging; peer group; peripheral lymphocyte; pharmaceutical care; phenotypic variation; problem behavior; psychotherapy; renography; school child; short stature; skill; social interaction; thyroid gland; time to treatment; Wechsler intelligence scale for children
DOI:
10.3892/br.2019.1210
