Small supernumerary marker chromosome

Humans typically have 22 pairs of autosomal chromosomes in our cells, and a pair of sex chromosomes. About 2.5 million individuals have an extra, 47th autosomal chromosome called a small supernumerary marker chromosome (sSMC). These small supernumerary marker chromosomes can originate from any of the 24 different human chromosomes. About 70% of the cases with sSMC are de novo (new mutations), 30% are inherited within a family.

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About 30% of the carriers of a sSMC are clinically abnormal. The main problem in connection with a sSMC appears when the diagnosis of the presence of a sSMC is made prenatally. Until recently there was no possibility to make clear predictions about the outcome of the pregnancy. However, research is being carried out into the link between the presence of a sSMC in individuals and any consequent symptoms.

References

• Liehr et al. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Research, 2004; 107: 55-67
• Liehr et al. Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation. Cytogenet Genome Res. 2006; 112:23-34.

• patient support group 1: UNIQUE = rare chromosome disorder support group

• patient support group 2: CONTACT a family - for families with disabled children

• patient support group 3: Living with Trisomy

• patient support group 4: Pallister Killian Syndrome Home page

• patient support group 5: PKS Support Online

• patient support group 6: IDEAS - isodicentric 15

• patient support group 7: Chromosome 18 registry & research society

• patient support group 8: Chromosome 22 Central - C22C; Chromosome 22 related disorders

• patient support group 9: KIDS-22q11 e.V. (German)