symbols used in human cytogenetics

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A–G, the chromosome groups; 1–22, the autosome numbers; X, Y, the sex chromosomes; p, the short arm of a chromosome; q, the long arm of a chromosome; ace, acentric; cen, centromere; dic, dicentric; inv, inversion; r, ring chromosome; t, translocation; a plus (+) or minus (−) when placed before the autosome number or group letter designation indicates that the particular chromosome is extra or missing; when placed after a chromosome arm, a plus or minus designation indicates that the arm is longer or shorter than usual; a diagonal (/) separates cell lines when describing mosaicism. Examples: 45,XX, −C = 45 chromosomes, XX sex chromosomes, a missing chromosome from the C group; 46, XY, t (Bp−;Dq+) = a reciprocal translocation in a male between the short arm of a B and the long arm of a D group chromosome; inv (Dp+, q−) = a pericentric inversion involving a D chromosome; 2p+ = an increase in the length of the short arm of a chromosome 2; 46,XX, r = a female with one ring X chromosome; 45,X/46, XY = a mosaic of two cell types, one with 45 chromosomes and a single X, one with 46 chromosomes and XY sex chromosomes. See human mitotic chromosomes.

Subjects: Genetics and Genomics.

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