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Article

Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin.

American journal of medical genetics - 15 Mar 1996

Tupler R, Pagliano E, Barbierato L, Lanzi G, Maraschio P, Fazzi E

Abstract excerpt

We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q).

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Source

Identifiers

PMID: 8882396
DOI: 10.1002/(SICI)1096-8628(19960315)62:2<160::AID-AJMG8>3.0.CO;2-#

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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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