Autoszomális recesszív
Caused by changes that stop both copies of the FANCM gene from working. FANCM acts in the Fanconi anaemia DNA repair pathway, and cells show increased chromosome breakage.
Tünetek és jelek
Reported features include reduced fertility, such as absent sperm production in men and early loss of ovarian function in women. Many features are still being defined because few people have been described.
Mit változtat a diagnózis
Diagnosis allows cancer treatment to be planned with care. Cancer surveillance and fertility counselling may be offered by specialist teams. Genetic counselling is recommended, and carrier testing is available for relatives.
Vizsgált gének
MONDO:0100578Források: [1][4][2][5]
