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

Research output: Contribution to journalArticle

70 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)319-321
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume78
Issue number4
DOIs
Publication statusPublished - 1998 Jul 24

Fingerprint

Monozygotic Twins
22q11 Deletion Syndrome
Fetofetal Transfusion
Imperforate Anus
Tetralogy of Fallot
Deglutition
Fluorescence In Situ Hybridization
Intellectual Disability
Chromosomes
Phenotype

Keywords

  • 22q11.2 deletion
  • Monozygotic twins
  • Phenotypic variability

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Phenotypic discordance in monozygotic twins with 22q11.2 Deletion. / Yamagishi, Hiroyuki; Ishii, Chihiro; Maeda, Jun; Kojima, Yoshifumi; Matsuoka, Rumiko; Kimura, Misa; Takao, Atsuyoshi; Momma, Kazuo; Matsuo, Nobutake.

In: American Journal of Medical Genetics, Vol. 78, No. 4, 24.07.1998, p. 319-321.

Research output: Contribution to journalArticle

Yamagishi, H, Ishii, C, Maeda, J, Kojima, Y, Matsuoka, R, Kimura, M, Takao, A, Momma, K & Matsuo, N 1998, 'Phenotypic discordance in monozygotic twins with 22q11.2 Deletion', American Journal of Medical Genetics, vol. 78, no. 4, pp. 319-321. https://doi.org/10.1002/(SICI)1096-8628(19980724)78:4<319::AID-AJMG3>3.0.CO;2-G
Yamagishi, Hiroyuki ; Ishii, Chihiro ; Maeda, Jun ; Kojima, Yoshifumi ; Matsuoka, Rumiko ; Kimura, Misa ; Takao, Atsuyoshi ; Momma, Kazuo ; Matsuo, Nobutake. / Phenotypic discordance in monozygotic twins with 22q11.2 Deletion. In: American Journal of Medical Genetics. 1998 ; Vol. 78, No. 4. pp. 319-321.
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