Syndrome 47,XXX

Scheme of the development of the syndrome 47,XXX

Chromosome X trisomy , also called Triple X syndrome (and formerly "Superfemale syndrome"), is a gonosomal numerical aberration . As the name already suggests, it is caused by karyotype 47,XXX, it can also occur in mosaic . Karyotype 48,XXXX or 49,XXXXX can also occur very rarely, these cases have a different and more serious manifestation. The 47,XXX syndrome itself does not have a distinct clinical picture, some women are examined for infertility. There may be minor psychosocial problems, such as learning problems.

Clinical picture

The phenotype is female . The clinical picture is inconspicuous to normal. The course of puberty is without problems, fertility is generally preserved, but some women with this syndrome tend to have a worse reproductive history, on the basis of which they are indicated for a genetic examination, in which the trisomy of the X chromosome is subsequently diagnosed. The syndrome is not associated with psychomotor retardation, some patients may have delayed speech development and emotional maturation..

ICD-10 classification

Syndrome 47,XXX according to ICD-10 Q97

• Q97.0 Karyotype 47,XXX
• Q97.1 Female with more than three X chromosomes

Links

related articles

• Chromosomal abnormalities
• Numerical chromosomal abnormalities
• Syndromes due to aneuploidy of gonosomes
  • Turner syndrome
  • Klinefelter syndrome
  • 47,XYY syndrome

External links

• Triple-X females – AN ORIENTATION
• Triple X Syndrome - Genetics Home Reference

References

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