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Article

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

18 Sept 2002

Abstract excerpt

We report on a woman with Muellerian aplasia, renal and skeletal anomalies, and minor dysmorphic signs. Conventional cytogenetic analysis revealed mosaicism for a small supernumerary, undefinable ring chromosome. Chromosome microdissection and reverse painting demonstrated that this marker contained pericentric material from chromosome 8 (8p12q12). Thus, we identified a Muellerian aplasia phenotype with partial...

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PMID: 12503109
DOI: 10.1002/ajmg.a.10902

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