Partial trisomy 14q24 leads to qter.
A newborn male with partial trisomy for the distal part of the long arm of chromosome 14 (14q24 leads to qter) is described. The anomaly arose as an adjacent 1 meiotic segregation product from a balanced translocation t(11;14) (q25;q24) in the mother (figure). To our knowledge only one previous case involving the same segment has been reported. The karyotype was confirmed as 46,XY,der(11),t(11;14)(q25;q24) mat.
D002901:Chromosomes, Human, 13-15; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy