Abstract
Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.
| Original language | English |
|---|---|
| Pages (from-to) | 1-8 |
| Number of pages | 8 |
| Journal | Journal of Medical Genetics |
| Volume | 46 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2009 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Autistic phenotypes and genetic testing : State-of-the-art for the clinical geneticist. / Lintas, C.; Persico, A. M.
In: Journal of Medical Genetics, Vol. 46, No. 1, 01.2009, p. 1-8.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Autistic phenotypes and genetic testing
T2 - State-of-the-art for the clinical geneticist
AU - Lintas, C.
AU - Persico, A. M.
PY - 2009/1
Y1 - 2009/1
N2 - Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.
AB - Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.
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UR - http://www.scopus.com/inward/citedby.url?scp=58549101513&partnerID=8YFLogxK
U2 - 10.1136/jmg.2008.060871
DO - 10.1136/jmg.2008.060871
M3 - Article
C2 - 18728070
AN - SCOPUS:58549101513
VL - 46
SP - 1
EP - 8
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 1
ER -