Abstract
Chromosome 1q41q42 microdeletions have been classified as a syndrome consisting of significant developmental delay, seizures, and characteristic dysmorphic features. They harbor different breakpoints and their smallest region of overlap at 1q41q42 involves several genes, including DISP1. Deletion or variants of DISP1 have been proposed as a candidate for the midline defects in this syndrome but may not be responsible for its major features in some cases. We report here a patient with a 183-kb deletion in chromosome 1q41, representing the smallest deletion identified among cases of the 1q41q42 microdeletion syndrome. The involved genes are DISP1 and TLR5. This patient developed seizures and developmental delay but showed no facial dysmorphism or organ defects. This deleted region was inherited from a phenotypically normal parent. This case may help define the role of the DISP1 haploinsufficiency in phenotype and support the suggestion that DISP1 mutation or deletion may reveal incomplete penetrance.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
