Summary. The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies showed an inherited translocation, t(4q-;13q+), in several asymptomatic members of the family including the propositus' mother. This indicates that the propositus had partial trisomy for the distal one-third of the long arm of chromosome 4. Review ofthe literature suggests that urinary tract and genital anomalies may be a consistent feature of this partial trisomy.Chromosomal translocations are found in approximately 0-140/% (1/700) of all newborn babies (Sergovich et al, 1969, Walzer, Breau, andGerald, 1969;Lubs and Ruddle, 1970;Ratcliffe et al, 1970;Turner and Wald, 1970). Of these, one-third are reciprocal translocations resulting from the mutual exchange of chromosome segments between two non-homologous chromosomes. Individuals bearing both products of the exchange ('balanced translocation carriers') are generally normal phenotypically because they have lost little or no genetic material. However, such translocation heterozygotes may transmit to their offspring only one of the two translocation chromosomes, and this results in a child with chromosomal deficiency or duplication. It is the consequent congenital anomalies that bring the family to the attention of a physician. We report here a family in which a balanced transloca-

A female child had multiple anomalies and a long B-group chromosome. Her normal mother was a carrier of a reciprocal translocation, presumably between chromosomes No. 5 and No. 14. The proband's karyotype cannot be interpreted on the basis of usual meiotic events in the mother. The Downloaded From: http://archpedi.jamanetwork.com/ by a University of Manitoba User on 06/16/2015