X-chromosomal male letale mutation

Last updated on: 27.07.2021

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

X-linked mutations can be lethal or non-lethal for male embryos.

In the case of X-linked lethal mutations, only female embryos can survive, as they can build up a functional mosaic via the so-called Lyon effect.

This phenotype is observed almost exclusively in female individuals. Male embryos that have only one X chromosome die in utero. Female individuals survive because they can build a functional mosaic via the Lyon effect of X inactivation.

Examples of such cutaneous mosaics, which mostly manifest in the pattern of Blaschko lines, are incontinentia pigmenti, X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome), and focal dermal hypoplasia.

LiteratureThis section has been translated automatically.

  1. Happle R (2016) The categories of cutaneous mosaicism: a proposed classification. Am J Med Genet A 170A: 452-459
  2. Moog U et al (2020) Diseases caused by genetic mosaicism. Dtsch Ärztebl Int 117: 119-125

Last updated on: 27.07.2021