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
โฆ LIBER โฆ
Monozygotic Twins with Chromosome 22q11 Microdeletion and Discordant Phenotypes in Cardiovascular Patterning
โ Scribed by J.-H. Lu; M.Y. Chung; B. Hwang; H.P. Chien
- Book ID
- 105939196
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 235 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0172-0643
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entitled ''Co-occurrence of Chromosome 22q11.2 Microdeletion and Trisomy 21 Mosaicism.'' We thank the authors for their informative remarks about this association, but would like to point out that we definitely do not recommend investigating for chromosome 22q11.2 microdeletion (del22q11.2) in all c
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