Summary
An unusual chromosome 16 is described in a family. The variant chromosome 16 had an additional C-band negative, G-band dark segment in the proximal region of the short arm. A proband was slightly retarded and had several minor anomalies. However, her mother and her maternal grandfather with the same variant chromosome 16 had no apparent phenotypic abnormalities. Thus, its absence of any consistent phenotypic effects in the family indicates that this is a variant chromosome, but its extra band differs from constituting heterochromatin in staining properties. The awareness of chromosomal heteromorphism is very important for clinical cytogenetics, because it may prevent a diagnostic misinterpretation.
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Arinami, T., Kondo, I. A Japanese case with an unusual variant of chromosome 16 with an extra C-negative, G-dark segment in the short arm. Jap J Human Genet 33, 373–376 (1988). https://doi.org/10.1007/BF02032868
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DOI: https://doi.org/10.1007/BF02032868