Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes.
We report 2 patients from different families with malformation-retardation syndromes caused by a partial trisomy of the long and of the short arm of chromosome 5, respectively (case 1: 46,XX,der(3),t(3;5)(p27;p13)mat; case 2: 46,XY,der(22),t(5;22)(q33;q13)pat). Several members of these families were balanced translocation carriers. Our cases are compared with those cited in the literature. The possibility of delineating a 5p- and a 5q-partial-trisomy syndrome is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001399:Azure Stains; D002875:Chromosomes / Q000648:ultrastructure; D002905:Chromosomes, Human, 4-5; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009043:Motor Activity; D010641:Phenotype; D014314:Trisomy
D001399:Azure Stains