An aberrant autosome (13-15) in a human female and her father, both apparently normal

Abstract

A satellited submetacentric chromosome, replacing one of the acrocentric members of the 13-15 group, was found in an apparently normal human female and her father; their karyotypes were otherwise normal. The aberrant chromosome is interpreted as likely to have arisen as a result of a pericentric inversion in one of the long acrocentrics. A small duplication is possibly also involved since the altered chromosome is larger than any of the normal long acrocentrics in the complement. Since the proposita was discovered in a survey of karyotypes of apparently normal individuals, the frequency of autosomal aberrations in "normal" human populations is discussed with respect to our own observations and those of other investigators.