Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
The 16p11.2 deletion syndrome is a clinically heterogeneous disorder, characterized by developmental delay, intellectual disability, hyperphagia, obesity, macrocephaly and psychiatric problems. Cases with 16p11.2 duplication syndrome have similar neurodevelopmental problems, but typically show a partial ‘mirror phenotype’ with underweight and microcephaly. Various copy number variants (CNVs) of the chromosomal 16p11.2 region have been described. Most is known about the ‘typical’ 16p11.2 BP4-BP5 (29.6–30.2 Mb; ~600 kb) deletions and duplications, but there are also several published cohorts wit... Mehr ...
Verfasser: | |
---|---|
Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2024 |
Reihe/Periodikum: | Vos , N , Kleinendorst , L , van der Laan , L , van Uhm , J , Jansen , P R , van Eeghen , A M , Maas , S M , Mannens , M M A M & van Haelst , M M 2024 , ' Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options ' , European Journal of Human Genetics . https://doi.org/10.1038/s41431-024-01601-2 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27464731 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://research.vumc.nl/en/publications/1fb1dce4-78b9-4fce-bfa5-8e9e51467fbc |