OPTIC ATROPHY, MICROCEPHALY, MENTAL-RETARDATION AND MOSAIC VARIEGATEDANEUPLOIDY - A HUMAN MITOTIC MUTATION

A 12-year-old girl presents with optic atrophy, pale papilla, amblyopi a and microcephaly (-3 s.d.) with mild mental retardation and facial d ysmorphism. She had mitral insufficiency with mitral prolapse and mode rate short stature (-2,5 d.s.). She had normal flash visual evoked pot entials, normal electroretinograms and electrooculograms and normal cr anial CT scan as well as other lab tests to rule out malformations, tu mors or multiple sclerosis. Her lymphocyte karyotype showed a variegat ed mosaicism with : 2 cells with 49, XX, +mar, +mar, +mar; 21 cells wi th 48, XX, +mar, +mar; 57 cells, with 47, XX, +mar; 20 cells with 46, XX; while parental karyopypes were normal. This syndrome therefore ass ociates optic atrophy, mental retardation and microcephaly and short s tature with chromosomal instability in the form of variegated mosaicis m.