Familial Reciprocal Translocation Between a C Group (12?) Chromosome and a Late Labelling G Chromosome

Abstract
Details are given of a familial C/D translocation. The propositus presented several malformations. The chromosomal findings in the child were interpreted as partial trisomy for a C group chromosome. The healthy father showed a balanced reciprocal translocation between a C group and a G group chromosome. Autoradiographic studies revealed that the chromosomes involved most likely were 1 chromosome No. 12 and 1 of the late labelling G chromosomes. The paternal grandparents and the other family members examined had normal chromosomes. The possibility of a specific C (12?) trisomy syndrome with joint malformations is suggested.

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