@article{oai:u-ryukyu.repo.nii.ac.jp:02015726,
 author = {Nantomi, Kenji and Miyagi, Chuken and Izumikawa, Yosinori and Yosida, Kaoru and Hirayama, Kiyotake},
 issue = {2},
 journal = {琉球大学医学会雑誌 : 医学部紀要 = Ryukyu medical journal},
 month = {},
 note = {A patient with pencentric inversion of chromosome 4 associated with 18 trisomy mosaicism is reported. The phenotype of the patient was complicated with relatively mild phenotypes of 4p monosomy and 18 trisomy. Chromosomal analysis by high-resolution banding technique revealed inversion(4) associated with 18 trisomy mosaicism. The karyotype was designated as 46, XY, inv(4) (pl6q21.2)/47, XY, inv(4) (p16q21.1), +18. The pericentric inversion was transmitted by the healthy father with normal phenotype and mentality. This is the first case that phenotype of 4p monosomy was expressed in inversion(4) heterozygosity., 論文},
 pages = {87--93},
 title = {[原著］EXPRESSION OF 4P MONOSOMY PHENOTYPE IN HETEROZYGOUS PERICENTRIC INVERSION OF CHROMOSOME 4 ASSOCIATED WITH 18 TRISOMY MOSAICISM},
 volume = {10},
 year = {1987}
}