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Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

✍ Scribed by DH Tegay; KK Chan; L Leung; C Wang; S Burkett; G Stone; R Stanyon; HV Toriello; E Hatchwell


Book ID
110888753
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
277 KB
Volume
75
Category
Article
ISSN
0009-9163

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Isolated bilateral anophthalmia in a gir
✍ Driggers, Rita W.; Macri, Charles J.; Greenwald, Jeffrey; Carpenter, David; Aval 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 3 views

Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11