Breakpoint mapping by whole genome sequencing identifiesPTH2Rgene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement

Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement

BACKGROUND Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a causative gene disruption for the development NSC. We applied a whole genome sequencing approach on a...

Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report

One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16 6) (p12 q26) and 46, X...

Chromosomal Breakpoint Reuse in Genome Sequence Rearrangement

In order to apply gene-order rearrangement algorithms to the comparison of genome sequences, Pevzner and Tesler bypass gene finding and ortholog identification and use the order of homologous blocks of unannotated sequence as input. The method excludes blocks shorter than a threshold length. Here we investigate possible biases introduced by eliminating short blocks, focusing on the notion of br...

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

Correction: Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

[This corrects the article DOI: 10.1371/journal.pone.0169935.].