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Article

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.

American journal of medical genetics. Part A - 15 Jan 2003

Stalker Heather J, Keller Kory L, Gray Brian A, Zori Roberto T

Abstract excerpt

We report on a 34-year-old developmentally disabled man referred to our clinic for evaluation of possible Prader-Willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, XYY karyotype and the presence of a trinucleotide repeat expansion resulting in fragile X syndrome. To our knowledge, this is the first report of concurrence of XYY and fragile X syndrome in...

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Identifiers

PMID: 12494438
DOI: 10.1002/ajmg.a.10001

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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