Nine patients with a microdeletion 15q11. 2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances
M Doornbos, B Sikkema-Raddatz…�- European journal of�…, 2009 - Elsevier
Behavioural differences have been described in patients with type I deletions (between
breakpoints 1 and 3 (BP1–BP3)) or type II deletions (between breakpoints 2 and 3) of the
15q11. 2 Prader–Willi/Angelman region. The larger type I deletions appear to coincide with
more severe behavioural problems (autism, ADHD, obsessive–compulsive disorder). The
non-imprinted chromosomal segment between breakpoints 1 and 2 involves four highly
conserved genes, TUBGCP5, NIPA1, NIPA2, and CYFIP1; the latter three are widely�…
breakpoints 1 and 3 (BP1–BP3)) or type II deletions (between breakpoints 2 and 3) of the
15q11. 2 Prader–Willi/Angelman region. The larger type I deletions appear to coincide with
more severe behavioural problems (autism, ADHD, obsessive–compulsive disorder). The
non-imprinted chromosomal segment between breakpoints 1 and 2 involves four highly
conserved genes, TUBGCP5, NIPA1, NIPA2, and CYFIP1; the latter three are widely�…
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