Abstract:
:The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1 region in 11p15.5 through two generations but different phenotypes (Beckwith-Wiedemann and Silver-Russell syndromes, normal phenotype) are reported. The inconsistent phenotypic patterns of carriers of the same variant strongly indicate the impact of cis- and/or trans-acting modifiers on the clinical outcome of IC1 duplication carriers.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Eggermann T,Kraft F,Kloth K,Klopocki E,Hüning I,Hempel M,Kunstmann Edoi
10.1111/cge.13820subject
Has Abstractpub_date
2020-10-01 00:00:00pages
418-419issue
4eissn
0009-9163issn
1399-0004journal_volume
98pub_type
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