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To describe a patient who developed a young-onset, dopa-responsive parkinsonism linked to a de novo heterozygous… Expand An infant boy presented with trigonocephaly, mild craniofacial features, a small VSD, open ductus Botalli (ODB), bilateral hip… Expand SummaryThis communication contributes an additional case of partial trisomy for the long arm of chromosome 4[46,XX,t(X;4)(q27;q25… Expand SummaryIn a 16-month-old girl with stigmata of the 18q- syndrome, the analysis of Giemsa banding patterns displayed a chromosome… Expand SummaryThe case of a 5-year-old boy with partial trisomy for the long arm of chromosome No. 4 is described. The pattern of… Expand We describe the 11th case of a de novo partial trisomy of the long arm of chromosome 4, with the extra segment spanning from 4q27… Expand We describe a family carrying a direct duplication of an interstitial segment of the distal long arm of chromosome 4(q31.1q32.3… Expand We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical… Expand We report on a girl with a previously undescribed de novo direct tandem duplication 4q involving the segment q23----q27. Clinical… Expand The authors describe a case of trisomy 4q with a unilateral morning glory disc anomaly, a previously unreported ocular… Expand