Ontology highlight
ABSTRACT:
SUBMITTER: Loviglio MN
PROVIDER: S-EPMC5508252 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Loviglio M N MN Leleu M M Männik K K Passeggeri M M Giannuzzi G G van der Werf I I Waszak S M SM Zazhytska M M Roberts-Caldeira I I Gheldof N N Migliavacca E E Alfaiz A A AA Hippolyte L L Maillard A M AM Van Dijck A A Kooy R F RF Sanlaville D D Rosenfeld J A JA Shaffer L G LG Andrieux J J Marshall C C Scherer S W SW Shen Y Y Gusella J F JF Thorsteinsdottir U U Thorleifsson G G Dermitzakis E T ET Deplancke B B Beckmann J S JS Rougemont J J Jacquemont S S Reymond A A
Molecular psychiatry 20160531 6
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV- ...[more]