Poly-X Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q97.1 | Female phenotype with more than three X chromosomes |
| ICD-10 online (WHO version 2019) | |
The poly-X syndrome ( superfemale syndrome ) is a genome mutation in humans. The chromosome set of the cells consists of three ( triple X syndrome ) to eight X chromosomes instead of two X chromosomes.
Synonyms : Penta-X; Pentasomy X; Syndromes 49, XXXXX
The frequency of such a mutation is 1: 1000. Basically, people with poly-x syndrome are viable. The more X chromosomes there are in the genetic material, the more pronounced the cognitive disability is.
to form
- Karyotype 47, XXX ( triplo-X syndrome ), mostly without significant cognitive impairment
- Karyotype 48, XXXX (Tetra-X syndrome, 4-X syndrome), symptoms as in 5-X syndrome
- Karyotype 49, XXXXX (Penta-X syndrome, 5-X syndrome), first description by Kesaree and Wooley 1963, increased cognitive handicap and short stature with multiple dysmorphisms ( hypertelorism , upwardly extending lid axis, short neck).
Individual evidence
- ↑ Pentasomy X. In: Orphanet (rare diseases database).