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Article

Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Astbury Caroline, Christ Laurie A, Aughton David J, Cassidy Suzanne B, Kumar Arun, Eichler Evan E, Schwartz Stuart

Abstract excerpt

PURPOSE: The purpose of this study was to test the hypothesis that deletions of varying sizes in de novo apparently balanced chromosome rearrangements are a significant cause of phenotypic abnormalities. METHODS: A total of fifteen patients, with seemingly balanced de novo rearrangements by routine cytogenetic analysis but with phenotypic anomalies, were systematically analyzed. We characterized the breakpoints...

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Identifiers

PMID: 15017330
DOI: 10.1097/01.gim.0000117850.04443.c9

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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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