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Article

Delineation of the cryptic 1qter deletion phenotype.

American journal of medical genetics. Part A - 15 Mar 2007

Merritt J Lawrence, Zou Ying, Jalal Syed M, Michels Virginia V

Abstract excerpt

The 1qter microdeletion is often reported in the literature as a part of a complex chromosome rearrangement. We describe a patient with a normal initial cytogenetic analysis later found by subtelomeric FISH to have a de novo isolated 1qter microdeletion. Further characterization was completed through microarray comparative genomic hybridization (CGH) and specific bacterial artificial chromosomes (BACs) to a...

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Identifiers

PMID: 17304549
DOI: 10.1002/ajmg.a.31611

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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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