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Abstract #18544 Published in IGR 3-3
Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q
Kato R; Kishibayashi J; Shimokawa O; Harada N; Niikawa N; Matsumoto NAmerican Journal of Medical Genetics 2001; 15: 319-322
The authors report on a 28-year-old male 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 their knowledge, this is the second description of a possible relation between congenital glaucoma and 7q trisomy. The patient also had some Silver-Russell syndrome features, such as short stature of prenatal onset, characteristic triangular face, clinodactyly of the fifth fingers, and body asymmetry. Fluorescence in situ hybridization analysis on his chromosomes revealed that one copy of the insulin-like growth factor 1 receptor gene (IGF1R) at 15q25-q26 was deleted, suggesting a possible role of IGF1R in the SRS phenotype.
Dr R. Kato, Department of Pediatrics, National Higashi-Saitama Hospital, Saitama, Japan
Classification:
1.2 Population genetics (Part of: 1 General aspects)