Short stature is a common finding in patients with Ullrich-Turner syndrome. Structural abnormalities involving the terminal short arms of the X and Y chromosomes have been shown to lead to short stature. A putative locus affecting height called PHOG/SHOX has been localized to a 170-kb critical regio
Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies
✍ Scribed by Alves, Cláudia; Carvalho, Filipa; Cremades, Nieves; Sousa, Mário; Barros, Alberto
- Book ID
- 110025256
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 524 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1018-4813
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We report on a 4-year-old girl with retinoblastoma and de novo balanced translocation [46,X,t (X;13) (q23;q13)1. Unilateral retinoblastoma was discovered at age 9 months along with developmental delay and several manifestations of Tbrner syndrome. Chromosome studies showed an W13 translocation and a
NOR activity in a proband with 13/13 translocation and in her relatives was examined by NOR silver impregnation and by determination of the association frequencies. In the proband, besides the fused chromosomes 13, also a chromosome 14 and a 15 showed no NOR staining. Therefore the possibility could