Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
Journal of Medical Genetics Dec 15, 2017
Heide S, et al. - Researchers aspired to report the cytogenetic and methylation analyses in patients with Silver-Russell syndromes/Beckwith-Wiedemann syndromes SRS/BWS carrying 11p15 duplications and intended to establish the genotype/phenotype correlations. It was determined that the phenotype associated with 11p15 duplications was based on the size, genetic content, parental inheritance and imprinting status. The findings revealed the significance of the detection of these rare duplications for genetic counselling.
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