Trisomy 4p and Deletion 4p- in a Family having a Translocation, t(4p-; 12p+)

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Abstract
Chromosome studies on a newborn infant with the clinical features of 4p-syndrome revealed a 46, XY,4p- karyotype with deletion of bands distal to 4p 14. Investigation of the family revealed normal chromosomes in the mother and a balanced translocation rcp(4;12) (p14;p13) in the father, the paternal grandfather and an uncle. A severely retarded and malformed aunt is a partial trisomy for the short arms of chromosome 4, with the unbalanced karyotype 46, XX, 12p+ . It appears that monosomy of bands 4p 15 and 4p 16 leads to the full clinical features of 4p- syndrome, while trisomy of this region causes disabilities consistent with the rather more variable 4p trisomy syndrome. From currently reported cases, a summary is presented of the results of pregnancies of both male and female translocation carriers.

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