title: Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q.
abstract: 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 syndrome features, such as short stature of prenatal onset, a 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.
authors.affiliation: Department of Pediatrics, National Higashi-Saitama Hospital, Saitama, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Kato
authors.forename: J
authors.initials: J
authors.lastname: Kishibayashi
authors.forename: O
authors.initials: O
authors.lastname: Shimokawa
authors.forename: N
authors.initials: N
authors.lastname: Harada
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005901:Glaucoma / Q000151:congenital / Q000235:genetics*; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy