Article
Phenotypic discordance in monozygotic twins with 22q11.2 deletion.
American journal of medical genetics - 24 Jul 1998
Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N
Abstract excerpt
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....
Topics
- Abnormalities, Multiple
- Body Constitution
- Child
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome
- Diseases in Twins
- Face
- Female
- Fetofetal Transfusion
- Humans