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Article

Ring chromosome 8 syndrome: further characterization.

American journal of medical genetics - 17 Jan 2000

Tonk V S, Kukolich M K, Morgan D, Khan A, Jalal S M

Abstract excerpt

We describe two de novo cases of extra r(8) confirmed by fluorescent in situ hybridization (FISH). Based on these two and eight additional cases of extra r(8) confirmed by FISH, the phenotype is better documented. One of our patients had minor facial anomalies, near-normal growth, and neurological development. She had a ring in each cell analyzed. The second had minor craniofacial anomalies and growth and mental...

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

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Identifiers

PMID: 10607957
DOI: 10.1002/(sici)1096-8628(20000117)90:2<162::aid-ajmg14>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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