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)|
|Female and male karyotypes differ in the two gonosomes (chromosomes 23).|
The term was coined in 1906 by Thomas Harrison Montgomery Jr. (1873-1912).
- National Library of Medicine: Glossary: Autosome .
- 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.
- Nussbaum RL, McInnes RR, Willard HF, Hamosh A, Thompson MW. Thompson & Thompson Genetics in Medicine. 7th Edition, p. 69. Philadelphia: Saunders / Elsevier; 2007
- TH Montgomery Jr .: The terminology of aberrant chromosomes and their behavior in certain Hemiptera ; in: Science January 5, 1906, 23 (575), pp. 35-38