Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+).
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 4p14. 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 trismoy for the short arms of chromosome 4, with the unbalanced karyotype 45,XX,12p+. It appears that monosomy of bands 4p15 and 4p16 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.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy