Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

ABSTRACT:

Background

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, which was detected only after whole-genome sequencing. Unexpectedly, in all three cases a fragment from one of the chromothripsed chromosomes resulted to be inserted within a nonchromothripsed one.

Methods

Conventional cytogenetic techniques, paired-end whole-genome sequencing, polymerase chain reaction, and Sanger sequencing were used to char

SUBMITTER: Kurtas NE 

PROVIDER: S-EPMC6393660 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature