Acta paediatrica Japonica; Overseas edition
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Acta Paediatr Jpn
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Review Case Reports
Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q.
A patient with partial trisomy for the distal segment of the long arm of chromosome 5 (q35.1-->qter) with partial 18q monosomy is presented. The mother of the patient was phenotypically normal and was proved to be a carrier of a reciprocal translocation of the long arm of chromosomes 5 and 18 46,XX,t(5;18)(q35.1;q23). ⋯ Most of the clinical manifestations of the patient are compatible with the previously reported clinical features of partial trisomy of the distal segment of 5q. However, the calcification of bilateral basal ganglia has not been reported for this chromosomal anomaly.