Article
Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2009
Lopez-Valdes J A, Nieto K, Najera N, Cervantes A, Kofman-Alfaro S, Queipo G
Abstract excerpt
Ring chromosomes are present in 1 in 25,000 human fetuses; 99% arise de novo while less than 1% of rings are inherited. This chromosomal rearrangement may arise through a cytogenetic mechanism involving breaks in chromosome arms and fusion of the proximal broken ends, leading to a loss of distal material. Most patient Y ring chromosomes are present in a 45,X/46,X,r(Y) mosaic karyotype; molecular analyses of...
Topics
- Cell Nucleus
- Centromere
- Child
- Chromosome Banding
- Chromosomes, Human, Y
- Gonadal Dysgenesis, Mixed
- Humans
- In Situ Hybridization, Fluorescence
- Interphase
- Karyotyping
- Male
- Metaphase
- Mosaicism
- Phenotype