New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing-Reference-Cited by-同舟云学术

New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing

Published:2021-05-27 Issue:10 Volume:185 Page:3053-3056
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Singer Sylke¹²,Gazou Anastasia¹²,Sturm Marc¹²^ORCID,Demidov German¹²^ORCID,Mazzola Pascale¹²,Riess Olaf¹²,Ossowski Stephan¹²^ORCID,Dufke Andreas¹²^ORCID

Affiliation:

1. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

2. Center for Rare Diseases University of Tübingen Tübingen Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62357

Reference5 articles.

1. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

2. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

3. Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

4. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

5. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH

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