Microdeletion syndromes

Highlights • Technological advances have led to rapid discovery of microdeletion syndromes. • Many microdeletion syndromes are characterized by highly variable expressivity. • We describe several possible mechanisms that might explain such variable phenotypes. • Next generation sequencing techniques...

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Veröffentlicht in:	Current opinion in genetics & development 2013-06, Vol.23 (3), p.232-239
Hauptverfasser:	Carvill, Gemma L, Mefford, Heather C
Format:	Artikel
Sprache:	eng
Schlagworte:	Autistic Disorder - etiology Autistic Disorder - genetics Autistic Disorder - pathology Epilepsy - etiology Epilepsy - genetics Epilepsy - pathology Gene Deletion Gene Duplication Genetic Diseases, Inborn - classification Genetic Diseases, Inborn - etiology Genetic Heterogeneity Humans Intellectual Disability - etiology Intellectual Disability - genetics Intellectual Disability - pathology Medical Education Phenotype Polymorphism, Single Nucleotide
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Beschreibung
Zusammenfassung:	Highlights • Technological advances have led to rapid discovery of microdeletion syndromes. • Many microdeletion syndromes are characterized by highly variable expressivity. • We describe several possible mechanisms that might explain such variable phenotypes. • Next generation sequencing techniques will rapidly facilitate our understanding of microdeletion syndromes.
ISSN:	0959-437X 1879-0380
DOI:	10.1016/j.gde.2013.03.004