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Article

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

American journal of medical genetics. Part A - 15 Mar 2003

Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano M C, Buonadonna A L

Abstract excerpt

We report a 24-year-old woman with minor facial anomalies, mental retardation, seizures, and partial agenesis of the corpus callosum. Cytogenetic analysis showed a de novo terminal chromosome 1 long arm deletion. FISH with a panel of chromosome 1q42-qter bands-specific BAC and YAC clones located the breakpoint at the 1q42-q43 junction, with monosomy restricted to the 1q43 and 1q44 bands. The changing craniofacial...

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

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Identifiers

PMID: 12599188
DOI: 10.1002/ajmg.a.10018

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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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