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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...

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PMID: 19752596
DOI: 10.1159/000228717

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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