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Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

โœ Scribed by Ashutosh Halder; Manish Jain; Isha Chaudhary; Binuja Varma

Book ID
115024444
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
245 KB
Volume
5
Category
Article
ISSN
1755-8166

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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 retardat

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Variable phenotype and associations in chromosome 22q11.2 microdeletion
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