Exome sequence identifies a cryptic chromosome translocation in a family
decades after clinical diagnosis of Cornelia de Lange: case report
- Morgan Sekhon,
- Stephen Brown
Abstract
We present a family in which the recent birth of a baby resulted in the
establishment of a cytogenetic diagnosis of a different family member
whose initial evaluation and clinical diagnosis had occurred three
decades earlier. The new genomic findings have profound implications for
other family members.14 Sep 2022Submitted to Clinical Case Reports 20 Sep 2022Submission Checks Completed
20 Sep 2022Assigned to Editor
04 Oct 2022Reviewer(s) Assigned
24 Oct 2022Review(s) Completed, Editorial Evaluation Pending
30 Oct 2022Editorial Decision: Revise Minor
04 Nov 20221st Revision Received
07 Nov 2022Submission Checks Completed
07 Nov 2022Assigned to Editor
07 Nov 2022Review(s) Completed, Editorial Evaluation Pending
13 Nov 2022Editorial Decision: Accept
