Germ cell mosaic

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The term germ cell mosaic (syn .: germ line mosaic) describes the case that a part of the germ cells mutated in an individual during development. The germ cell mosaic can lead to the fact that healthy parents pass on pathologically altered genetic material to their descendants ( hereditary disease ). The disease is then not detectable in the parents, but in the affected children.

The germ cell mosaic is important for genetic counseling, i.e. for the risk of recurrence for subsequent siblings. A molecular genetic examination of the ejaculate can help to assess it . Usually the risk of recurrence is less than 1%.

Individual evidence

  1. Neumann HPH: "The Von Hippel Lindau Disease: Guide for Patients and Doctors", BoD - Books on Demand, 2002, p. 71, ISBN 9783831147717 , here online
  2. ^ Schaaf C., ea: "Basiswissen Humangenetik", Springer-Verlag, 2018, p. 83, ISBN 9783662561478 , here online