Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
Volume: 7, Issue: 2, Pages: e00496 - e00496
Published: Dec 18, 2018
Abstract
Background null Chromothripsis, which is the local massive shattering of one or more chromosomes and their reassembly in a disordered array with frequent loss of some fragments, has been mainly reported in association with abnormal phenotypes. We report three unrelated healthy persons, two of which parenting a child with some degree of intellectual disability, carrying a chromothripsis involving respectively one, two, and three chromosomes,...
Paper Details
Title
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
Published Date
Dec 18, 2018
Volume
7
Issue
2
Pages
e00496 - e00496
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