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Article

Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p).

American journal of medical genetics. Part A - 1 Nov 2010

Hand Matthew, Gray Carolyn, Glew Gwen, Tsuchiya Karen D

Abstract excerpt

We report on a female with a mild phenotype who is mosaic for two cell lines with different structural abnormalities of 8p, both resulting in large genomic imbalances. Molecular cytogenetic and G-banded chromosome analyses demonstrated that one cell line has a large terminal 8p deletion, with a breakpoint in 8p21.2. The other cell line contains a derivative chromosome 8, known as an inv dup del(8p) in the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20830805
DOI: 10.1002/ajmg.a.33669

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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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Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p).PMID 20830805Read ↗

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