An infant with trisomy 9pter yields 9q22 resulting from 3:1 segregation in a 46,XX t(1;9) (p36;q22) mother.
A newborn infant with a 47,XY,+ der(.),t(1;9) (p36;q22)mat chromosome complement and the clinical features of the 9p trisomy is described. A review of the reproductive histories of five cases with trisomy 9pter yields 9q21 or 22 indicate that the balanced translocation mothers of these infants may have as high as a 23% chance of producing a chromosomally unbalanced offspring due to 3:1 disjunction.
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy