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Article

Duplication of the terminal band of the long arm of chromosome 7: a new case.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2004

Boccone L, Gasperini D, Pilloni G, Cao A, Nucaro A

Abstract excerpt

We report on a new case of de novo duplication of the terminal band of chromosome 7, 46, XX dup(7) (q36 > qter), defined by fluorescence in situ hybridization (FISH), which cause a recognizable phenotype consisting of macrocephaly, prominent frontal bossing, slight developmental delay.

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Identifiers

PMID: 15083705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15083705-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Duplication of the terminal band of the long arm of chromosome 7: a new case.PMID 15083705Read ↗

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