Latest Research Articles


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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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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Partial trisomy 6p

  Partial trisomy 6p is a rare chromosomal anomaly associated with low birth weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart defects and renal abnormalities. In most previously reported cases trisomy 6p was associated with the partial monosomy of another chromosome, often due to parental balanced translocation. This further...
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