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Article

Clinical variability of tetrasomy 12p.

Clinical genetics - 1 Feb 1997

Schaefer G B, Jochar A, Muneer R, Sanger W G

Abstract excerpt

We describe five patients with tetrasomy 12p (one previously reported). These patients exhibit a very wide range of phenotypic features from that of classic Pallister-Killian syndrome to only mild learning disabilities with pigmentary skin changes. As such, these cases highlight the fact that tetrasomy 12p [i(12p)] and Pallister-Killian syndrome are not synonymous, although this combination of genotype and...

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Identifiers

PMID: 9111997
DOI: 10.1111/j.1399-0004.1997.tb02429.x

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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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