Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.

ABSTRACT:

Background

The 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that yield varied and wide-ranging phenotypes. Nearly 1% of male newborns have deletions in the Y chromosome; these events primarily involve the heterochromatic region, but may extend to euchromatic Yq segments containing azoospermia factor regions.

Case presentation

We describe the occurrence of two independent chromosomal rearrangements that originated as de novo events in a single male patient: a 10.8-Mb duplication of 17p11.2p12 and a 14.7-Mb deletion of Yq11. This individual shares some clinical characteristics with previously described patients having one or the other of these rearrangements, including global developmental delay,

SUBMITTER: Fernandez-Hernandez L 

PROVIDER: S-EPMC6670163 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature