Article
Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q.
American journal of medical genetics - 15 Dec 2001
Kato R, Kishibayashi J, Shimokawa O, Harada N, Niikawa N, Matsumoto N
Abstract excerpt
We report on a 28-year-old man with trisomy 7q34-qter and monosomy 15q26.3-qter caused by a paternal balanced chromosomal translocation, t(7;15)(q34;q26.3). He had bilateral congenital glaucoma (buphthalmos), as well as typical manifestations of partial trisomy 7q. To our knowledge, this is the second description of a possible relation between congenital glaucoma and 7q trisomy. He also had some Silver-Russell...
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