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XX male with sex reversal and a de novo 11;22 translocation

✍ Scribed by Merryn V.E. Macville; Wim H. Loneus; Dominique Marcus-Soekarman; Erik H.L.P.G. Huys; Eric F.P.M. Schoenmakers; April Schrank-Hacker; Beverly S. Emanuel; John J.M. Engelen


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
209 KB
Volume
140A
Category
Article
ISSN
1552-4825

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Isolated bilateral anophthalmia in a gir
✍ Driggers, Rita W.; Macri, Charles J.; Greenwald, Jeffrey; Carpenter, David; Aval πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 9 KB πŸ‘ 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