Abstract
A 10-month old male presented with developmental delay, hypotonia, microcephaly, and sparse, coarse hair. He was born at 38 weeks’ gestation to a 33-year-old G1P0 mother. Brain MRI revealed delayed myelination but otherwise normal appearance of the brain. In addition, he has had significant delay in reaching developmental milestones but has been making improvements with physical and speech therapy. In order to look for an underlying genetic cause for his clinical features, we performed whole-genome SNP microarray analysis.
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.
