Abstract
The authors report on a patient with Chiari I malformation associated to Waardenburg phenotype, multiple malformations, osteochondrodysplasia and microdeletion of 1q21,1 chromosome, of which they underline the rarity. The pathogenesis connected to the features of neural crest cells-derived structures with mesodermal-derived tissues, mainly in the facial and boundary region of malformed posterior cranial fossa, is discussed. The authors hypothesize that chromosomal microdeletion, acting directly or on contiguous gene(s) or by long range control of gene expression, have modified the function of some developmental genes, causing consequently the association of symptoms observed in the patient.
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 callMore From: Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale
Disclaimer: 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.
