Digynic triploid infant surviving for 46 days

Tomonobu Hasegawa, Naoki Harada, Kazushige Ikeda, Tomohiro Ishii, Isamu Hokuto, Kenji Kasai, Mamoru Tanaka, Ryuji Fukuzawa, Norio Niikawa, Nobutake Matsuo

研究成果: Article査読

30 被引用数 (Scopus)

抄録

We report on a triploid infant who survived for 46 days. She had severe intrauterine growth retardation, relative macrocephaly, and a small, noncystic placenta, which are manifestations compatible with type II phenotype. Cultured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blood lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromosomal heteromorphisms and microsatellite DNA polymorphisms in the infant and her parents indicated that the extra haploid set in the infant resulted from nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisjunction was ruled out because of the presence of both homozygous and heterozygous markers of maternal origin. A search of the literature demonstrated five triploid infants, including the girl we described, who survived 4 weeks or more, and the parental origin of whose triploidy was studied: four were digynic and one was diandric. These findings support the notion that type II triploids are digynic in parental origin and that they survive longer than type I, diandric triploids.

本文言語English
ページ(範囲)306-310
ページ数5
ジャーナルAmerican journal of medical genetics
87
4
DOI
出版ステータスPublished - 1999

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

フィンガープリント

「Digynic triploid infant surviving for 46 days」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル