In Fanconi Anaemia:

Fanconi Anemia Autosomal recessive Sho stature, microcephaly, microphthalmia, microstomia, Renal aplasia, cafe au lait spots, Generalised hyperpigmentation of skin, Mental retardation and hypoplasia of thumbs and of radii. Hypoplastic anaemia Increased susceptibility to spontaneous chromosomal breakage. Screening test is chromosomal breakage test -(Incubation of peripheral blood lymphocytes with diepoxybutane or mitomycin causes chromosomal breaks which can be seen on karyotyping). Definitive diagnosis is made by mutation analysis.