Phenotypic discordance in monozygotic twins with 22q11.2 deletion.
Am J Med Genet
; 78(4): 319-21, 1998 Jul 24.
Article
em En
| MEDLINE
| ID: mdl-9714432
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.
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Base de dados:
MEDLINE
Assunto principal:
Gêmeos Monozigóticos
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Anormalidades Múltiplas
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Cromossomos Humanos Par 22
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Deleção Cromossômica
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Doenças em Gêmeos
Limite:
Child
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Female
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Humans
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Male
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Pregnancy
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article