14
Jul
Chromosome 6p21.1 Deletion
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6p21.1 Deletion Deletions that include the p21.1 segment on the short arm of chromosome 6 can result in a rare condition called Cleidocranial dysplasia (CCD). Characterized by various skeletal malformations, CCD is caused by loss of function mutations in RUNX2, which is located within the 6p21.1 region1. RUNX2 plays key... Read More
21
Mar
6q26-6q27 Deletions
Deletions 6q26-6q27 Bands 6q26 and 6q27 are the most distal segments of the long arm of chromosome 6. Many patients have been identified as having deletions in this area. Isolated deletions of 6q26 are interstitial, while deletions involving 6q27 are mostly terminal. A majority of these deletions occur de novo,... Read More
28
Apr
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... Read More
