A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder
| Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
|---|---|
| Data(s) |
17/10/2013
17/10/2013
01/07/2012
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| Resumo |
Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered. (C) 2012 Wiley Periodicals, Inc. CNPq CNPq FAPESP/CEPID FAPESP/CEPID |
| Identificador |
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, HOBOKEN, v. 159B, n. 5, pp. 529-536, JUL, 2012 1552-4841 http://www.producao.usp.br/handle/BDPI/35169 10.1002/ajmg.b.32059 |
| Idioma(s) |
eng |
| Publicador |
WILEY-BLACKWELL HOBOKEN |
| Relação |
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS |
| Direitos |
restrictedAccess Copyright WILEY-BLACKWELL |
| Palavras-Chave | #POLYGENIC #BALANCED TRANSLOCATION #UNIPARENTAL DISOMY CHROMOSOME 5 #DUPLICATION 5Q11 #RHOXF2 #DE-LANGE-SYNDROME #SEVERE MENTAL-RETARDATION #COPY NUMBER VARIATION #PERVASIVE DEVELOPMENTAL DISORDERS #SCAFFOLDING PROTEIN SHANK3 #SPINAL MUSCULAR-ATROPHY #HIDDEN-MARKOV MODEL #SNP GENOTYPING DATA #BEHAVIORAL-PHENOTYPE #GLUTAMATE-RECEPTOR-6 GENE #GENETICS & HEREDITY #PSYCHIATRY |
| Tipo |
article original article publishedVersion |
