Research ExplorerPublicationsHeterogeneous phenotypes in families with duplications of th...

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5

Standard

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5. / Eggermann, Thomas; Kraft, Florian; Kloth, Katja; Klopocki, Eva; Hüning, Irina; Hempel, Maja; Kunstmann, Erdmute.

In: CLIN GENET, Vol. 98, No. 4, 10.2020, p. 418-419.

Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

Harvard

Eggermann, T, Kraft, F, Kloth, K, Klopocki, E, Hüning, I, Hempel, M & Kunstmann, E 2020, 'Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5', CLIN GENET, vol. 98, no. 4, pp. 418-419. https://doi.org/10.1111/cge.13820

APA

Eggermann, T., Kraft, F., Kloth, K., Klopocki, E., Hüning, I., Hempel, M., & Kunstmann, E. (2020). Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5. CLIN GENET, 98(4), 418-419. https://doi.org/10.1111/cge.13820

Vancouver

Eggermann T, Kraft F, Kloth K, Klopocki E, Hüning I, Hempel M et al. Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5. CLIN GENET. 2020 Oct;98(4):418-419. https://doi.org/10.1111/cge.13820

Bibtex

@article{94d69f69065549c2b7aa24ed13ca8af1,
title = "Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5",
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.",
author = "Thomas Eggermann and Florian Kraft and Katja Kloth and Eva Klopocki and Irina H{\"u}ning and Maja Hempel and Erdmute Kunstmann",
note = "{\textcopyright} 2020 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.",
year = "2020",
month = oct,
doi = "10.1111/cge.13820",
language = "English",
volume = "98",
pages = "418--419",
journal = "CLIN GENET",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "4",

}

RIS

TY - JOUR

T1 - Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5

AU - Eggermann, Thomas

AU - Kraft, Florian

AU - Kloth, Katja

AU - Klopocki, Eva

AU - Hüning, Irina

AU - Hempel, Maja

AU - Kunstmann, Erdmute

N1 - © 2020 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.

PY - 2020/10

Y1 - 2020/10

N2 - 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.

AB - 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.

U2 - 10.1111/cge.13820

DO - 10.1111/cge.13820

M3 - Other (editorial matter etc.)

C2 - 33294970

VL - 98

SP - 418

EP - 419

JO - CLIN GENET

JF - CLIN GENET

SN - 0009-9163

IS - 4

ER -