Phenotypic discordance in monozygotic twins with 22q11.2 Deletion

Hiroyuki Yamagishi, Chihiro Ishii, Jun Maeda, Yoshifumi Kojima, Rumiko Matsuoka, Misa Kimura, Atsuyoshi Takao, Kazuo Momma, Nobutake Matsuo

研究成果: Article査読

78 被引用数 (Scopus)

抄録

We report on male monozygotic twins with 22q11.2 deletion and discordant phenotypes. The twins had twin-to-twin transfusion syndrome. Twin 1, the smaller of the pair, had Tetralogy of Fallot, a characteristic facial appearance, swallowing dysfunction, anal atresia, short stature, and mental retardation, whereas twin 2 had a characteristic facial appearance but no other signs of the 22q11 deletion syndrome. Fluorescence in situ hybridization analysis showed a microdeletion on chromosome 22q11.2 in both twins. Zygosity analysis gave a probability of monozygosity greater than 99.999%. These observations indicate that environmental factors or postzygotic events play a role in the phenotypic variability in the twins.

本文言語English
ページ(範囲)319-321
ページ数3
ジャーナルAmerican journal of medical genetics
78
4
DOI
出版ステータスPublished - 1998 7月 24

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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