-transparent.png){kind=logo}
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.
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
September 2008,
Clinical genetics,
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
March 2012,
Molecular cytogenetics,
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
October 2002,
American journal of medical genetics,
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
December 1990,
American journal of medical genetics,
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
January 2021,
Prenatal diagnosis,
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
January 1991,
American journal of diseases of children (1960),
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
July 1956,
A.M.A. journal of diseases of children,
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
November 1972,
The Journal of urology,
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
May 1971,
Birth defects original article series,
H Yamagishi, and
C Ishii, and
J Maeda, and
Y Kojima, and
R Matsuoka, and
M Kimura, and
A Takao, and
K Momma, and
N Matsuo
March 1984,
Anales espanoles de pediatria,
