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
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2)
β Scribed by Zhu, Guanshan ;Gillessen-Kaesbach, Gabriele ;Wirth, Jutta ;Passarge, Eberhard ;Bartsch, Oliver
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 130 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0148-7299
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