A germline chromothripsis event stably segregating in 11 individuals through three generations.

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Abstract

Parentally transmitted germ-line chromothripsis (G-CTH) has been identified in only a few cases. Most of these rearrangements were stably transmitted, in an unbalanced form, from a healthy mother to her child with congenital abnormalities probably caused by de novo copy-number changes of dosage sensitive genes. We describe a G-CTH transmitted through three generations in 11 healthy carriers.

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Journal

Journal ID (iso-abbrev): Genet. Med.

Title: Genetics in medicine : official journal of the American College of Medical Genetics

Publisher: Springer Nature

ISSN (Electronic): 1530-0366

ISSN (Print): 1098-3600

Publication date (Electronic): May 2016

Volume: 18

Issue: 5

Affiliations

[1 ] Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark.

[2 ] Max Delbrück Center for Molecular Medicine, Berlin Institute for Medical Systems Biology, Berlin, Germany.

[3 ] Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark.

[4 ] Neurogenetics Clinic, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, and Department of Cellular and Molecular Medicine, Section of Neurogenetics, University of Copenhagen, Copenhagen, Denmark.

[5 ] Generade Center of Expertise Genomics; University of Applied Sciences Leiden, Leiden, The Netherlands.

Article

Publisher Item ID: gim2015112

DOI: 10.1038/gim.2015.112

PubMed ID: 26312826

SO-VID: 14326ed1-4fe8-4f17-852f-8917ee6ca5fa

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