Mild expression of 3qter trisomy due to a de novo (X;3)(p22.3;q25.3) translocation.
A 3-year-old girl was found to have a 3qter trisomy resulting from a de novo t(X;3)(p22.3;q25.3) with a mild expression of the imbalance. Replication studies revealed a late replicating der (X) in 86% of the scored lymphocytes with variable patterns of inactivation of the 3q segment.
D000328:Adult; D002648:Child; D002900:Chromosomes, Human, 1-3; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy; D014960:X Chromosome