... with Beckwith-Wiedemann syndrome are caused by chromosomal rearrangements involving the 11p15 region. CDKN1C mutations. Maternally inheritable CDKN1C loss-of- ...

... Le Bouc Y, Netchine I, Brioude F. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with ...

... Allelic) Disorders CDKN1C is located in the chromosome 11p15 imprinting clusters ( Figure 1 ) where abnormal methylation and complex rearrangements can result in other genetically related disorders (see ...

... Dunnen JT, White SJ, Giordano PC. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by ...

... are at risk of having a balanced chromosome rearrangement and should be offered chromosome ... carrying a balanced 11p15 translocation , the recurrence risk may be as high ...

... gene transcription in two imprinted domains on chromosome 11p15.5. Isolated hydrocephaly or megalencephaly may be distinguished ... 13% (Multi) exon or large-scale deletions or rearrangements Rare 3 1% Deep intronic variants that alter ...