Abstract

Numerous chromosomal rearrangements, including the X chromosome, have been reported in individuals with Cornelia de Lange syndrome (CdLS) as possible responsible of CdLS phenotype, somatic, growth, and cognitive abnormalities. I here describe the case of a Hispanic girl with most of the major features of CdLS, whose cytogenetic analysis reported loss of the X chromosome consistent with a diagnosis of Turner syndrome.

Full Text
Paper version not known

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 call

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.