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Article

Ring chromosome 9 with a 9p22.3-p24.3 duplication.

European journal of pediatrics - 1 Oct 1999

Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, Marchi A, Tiepolo L

Abstract excerpt

UNLABELLED: A ring chromosome 9 containing an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and bilateral clinodactyly. The typical facial dysmorphic features of 9p duplication, ascribed to trisomy of the band p22, were not present in this...

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Source

Identifiers

PMID: 10486077
DOI: 10.1007/s004310051206

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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