Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

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Fig. 1.

(A) Pedigree of the family with ataxia-telangiectasia. The shaded circle indicated by the black arrow indicates the patient, “II-3”. Symbols marked with dots are definite carriers. Stars indicate sampled subjects. (B) Conjunctival telangiectasia in the right eye (black arrow) was observed but not prominent. (C) Serial brain magnetic resonance imaging in the patient at the age of 3, 4, and 5 years. The upper row shows sagittal T1-weighted images and the lower row shows axial T2-weighted images. These show diffuse decreased cerebellar volume with enlargement of cerebellar sulci, hemisphere atrophy, and compensatory enlarged posterior fossa due to enlarged cisterna magna.

Journal of Genetic Medicine 2018;15:110-4
© 2018 Korean Society of Medical Genetics and Genomics