Characterization of a 520kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: Additional information

American Journal of Medical Genetics, Part A

Volumn 167, Issue 6, 2015, Pages 1424-1424

  Kamien, Benjamin ^a,b   Harraway, James ^c   Lundie, Ben ^c   Smallhorne, Lex ^c   Gibbs, Vicki ^a   Heath, Anna ^d   Fullerton, Janice M ^d,e  

^a Hunter Genetics ^*  (Australia)

^b UNIVERSITY OF NEWCASTLE   (Australia)

^c SULLIVAN NICOLAIDES PATHOLOGY   (Australia)

^d NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^e UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ATTENTION DEFICIT DISORDER; AUTISM; BEHAVIOR DISORDER; BIPOLAR DISORDER; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COPY NUMBER VARIATION; EPILEPSY; GENE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; INTELLIGENCE; LETTER; MOTHER; PATHOGENICITY; PENETRANCE; PRIORITY JOURNAL; PSYCHOLOGIC ASSESSMENT; ST8SIA2 GENE; ADOLESCENT; CASE REPORT; CHROMOSOME 15; DEFICIENCY; FATHER; GENE DELETION; GENE EXPRESSION; GENETICS; INHERITANCE; MALE; MIDDLE AGED; PATHOLOGY;

CMP-N-ACETYLNEURAMINATE-POLY-ALPHA-2,8-SIALOSYL SIALYLTRANSFERASE; SIALYLTRANSFERASE;

ADOLESCENT; AUTISM SPECTRUM DISORDER; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; EPILEPSY; FATHERS; GENE DELETION; GENE EXPRESSION; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; SIALYLTRANSFERASES;

EID: 84929960728     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36846     Document Type: Letter

References (1)

1. Kamien B, Harraway J, Lundie B, Smallhorne L, Gibbs V, Heath A, Fullerton JM. 2014. Characterization of a 520kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. Am J Med Genet 164:782-788.