A Female Newborn Having Mosaicism with Near-Tetraploidy and Trisomy 18

作者：Wada Yuka^*; Kakiuchi Satsuki; Mizuguchi Koichi; Nakamura Tomoo; Ito Yushi; Sago Haruhiko; Kosaki Rika

来源：American Journal of Medical Genetics, Part A, 2016, 170(5): 1262-1267.

DOI：10.1002/ajmg.a.37558

• tetraploidy
• trisomy 18
• mosaicism
• newborn

Tetraploidy is characterized by the presence of four complete sets of chromosomes in an individual. Full tetraploidy is usually considered lethal. To date, only ten live-births with the condition have been reported. Trisomy 18 without neonatal intensive treatment is also known to be fatal. We report a female newborn who had mosaicism with near-tetraploidy and trisomy 18 (94, XXXX, +18, +18/47, XX, +18). She had features of conditions. The most plausible mechanism of the formation was a failure of cytoplasmic cleavage at the first division of the zygote. The longer survival of the patient compared with the 10 previously reported live-births with non-mosaic tetraploidy may be due to the dominance of the trisomy cells. We suggest that non-tetraploid cells, even when trisomic for chromosome 18, might contribute to longer survival in comparison to non-mosaic tetrapolid patients.

• 出版日期2016-5