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Article

Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.

European journal of medical genetics - 1 Jan 2000

Inage Eisuke, Suzuki Mitsuyoshi, Minowa Kei, Akimoto Nahoko, Hisata Ken, Shoji Hiromichi, Okumura Akihisa, Shimojima Keiko, Shimizu Toshiaki, Yamamoto Toshiyuki

Abstract excerpt

Trisomy of 12p is a rare chromosomal abnormality, which sometimes coexists with other chromosomal anomalies. We report on a patient with a supernumerary chromosome involving chromosomes 12 and 14, which was confirmed by array-comparative genomic hybridization (aCGH). He had developmental delay and dysmorphic features overlapped with those of Pallister-Killian syndrome, which is derived from an isodicentric...

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Identifiers

PMID: 20219705
DOI: 10.1016/j.ejmg.2010.02.009

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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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