25
Dec

CDO Winter 2023 Newsletter

CDO Winter 2023 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner and Ask the Doctor. Additionally, new research synopses, such as the following on 9p deletion, are detailed in each issue – 9p deletion syndrome is a rare autosomal dominant disorder characterized by a deletion in the short arm...
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21
Sep

Ring chromosome 7 syndrome

  Ring formation on chromosome 7 is very rare. A ring chromosome is formed when two ends of a chromosome fuse together, forming a ring structure; this can happen with or without terminal chromosomal deletions. Clinical manifestations of ring chromosome 7 syndrome, r(7), include growth and developmental delay, speech delay, intellectual disability, seizures, cardiovascular anomalies,...
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01
Sep

Multisuture craniosynostosis: unusual finding in chromosome 14q32 deletion

Craniosynostosis is defined as the premature fusion of the cranial sutures that result in abnormal head shapes and restrained cranial growth. It can manifest syndromic and yield multisutural fusions. Multisuture craniosynostosis is associated with many syndromes, but only ~12% of syndromic craniosynostosis cases are caused by chromosomal abnormalities. Chaisrisawadisuk et al. introduce a 2-month-old female...
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29
Jun

CDO Summer 2023 Newsletter

Chromosome Disorder Outreach’s Summer 2023 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Summer issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
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