Double trisomy 48,XXX,+ 18 in a newborn.
We report the 6th case of double trisomy X and 18 ie, 48,XXX,+ 18. The infant lacked overlapping fingers, simian creases, and structural heart disease and is alive at 275 days. Two X chromosomes were late replicating. Anomalies of the hands and kidneys involved only the right side in the present case; review of the five previous cases of 48,XXX, +18 also showed that anomalies of kidneys, hands, and ears affected predominantly the right side in three patients.
D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D003878:Dermatoglyphics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012730:Sex Chromosomes; D014314:Trisomy; D014960:X Chromosome