Linda Sorg


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,...
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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

Partial Tetrasomy 6p comparable to Trisomy Distal 6p Phenotype

Tetrasomy 6p caused by a small supernumerary marker chromosome presenting Trisomy distal 6p Phenotype. A small supernumerary marker chromosome (sSMC) is a structurally abnormal additional chromosome that most often lacks a distinct banding pattern and is difficult to identify by conventional banding cytogenetic analysis. Approximately 70% of such chromosomes occur...
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