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Article

Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome

21 Jan 2005

Abstract excerpt

We report a family with inherited Potocki-Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inherited a maternal deleted chromosome 11 but not the marker chromosome, thus resulting in an unbalanced karyotype along with the...

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PMID: 15666301
DOI: 10.1002/ajmg.a.30362

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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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