Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.
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ABSTRACT:
SUBMITTER: Demurger F
PROVIDER: S-EPMC3776394 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Publications
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.
Démurger F F Pasquier L L Dubourg C C Dupé V V Gicquel I I Evain C C Ratié L L Jaillard S S Beri M M Leheup B B Lespinasse J J Martin-Coignard D D Mercier S S Quelin C C Loget P P Marcorelles P P Laquerrière A A Bendavid C C Odent S S David V V
Molecular syndromology 20130801 6
Rhombencephalosynapsis is an uncommon, but increasingly recognized, cerebellar malformation defined as vermian agenesis with fusion of the hemispheres. The embryologic and genetic mechanisms involved are still unknown, and to date, no animal models are available. In the present study, we used Agilent oligonucleotide arrays in a large series of 57 affected patients to detect candidate genes. Four different unbalanced rearrangements were detected: a 16p11.2 deletion, a 14q12q21.2 deletion, an unba ...[more]
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