from Wikipedia, the free encyclopedia

In genetics, autosomes are those chromosomes that do not belong to the gonosomes (sex chromosomes).

Humans typically have 46 chromatids in 23 pairs. Chromosome pairs 1 to 22 are autosomes, the 23rd chromosome pair is the sex chromosome (XY in men and XX in women). As autosomal - either autosomal dominant , autosomal intermediate or autosomal recessive - is the term used for inheritance in which the affected gene is located on an autosome. Sex-determining genes are distributed on both autosomes and gonosomes. A certain mutation in the SOX9 gene leads to a feminization of people with the Y chromosome.


Autosomes are examined in the course of a karyotyping . The chromosomes from cells in the metaphase or prometaphase arrest are usually stained using Giemsa staining and viewed under a light microscope . For better comparison, they are shown as a karyogram . For example, cells in Patau syndrome have three copies of chromosome 13 , while in Down syndrome there are three copies of chromosome 21 .

Karyotype of human chromosomes
Female (XX) Male (XY)
Human male karyotype.gif
Female and male karyotypes differ in the two gonosomes (chromosomes 23).


The term was coined in 1906 by Thomas Harrison Montgomery Jr. (1873-1912).

Individual evidence

  1. ^ National Library of Medicine: Glossary: ​​Autosome .
  2. Foster, Jamie W., et al. "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene." Nature 372.6506 (1994): 525-529.
  3. ^ Nussbaum RL, McInnes RR, Willard HF, Hamosh A, Thompson MW. Thompson & Thompson Genetics in Medicine. 7th Edition, p. 69. Philadelphia: Saunders / Elsevier; 2007
  4. ^ TH Montgomery Jr .: The terminology of aberrant chromosomes and their behavior in certain Hemiptera ; in: Science January 5, 1906, 23 (575), pp. 35-38