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Article

An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.

European journal of pediatrics - 1 Jun 2008

Koç Altuğ, Kan Derya, Karaer Kadri, Ergün Mehmet A, Karaoğuz Meral Yirmibeş, Gücüyener Kivilcim, Hinreiner Sophie, Liehr Thomas, Perçin E Ferda

Abstract excerpt

Major neurological disorders may accompany rare chromosomal abnormalities. As an example of this rare condition, we present a case with microcephaly, mental retardation, developmental delay, hyperactivity, stereotypic movements, seizures and dysmorphic facial appearance in whom a mosaic ring chromosome 18 was found [45,XX,-18/46,XX,r(18)/46,XX,dicr(18)]. Although ring chromosome 18 phenotype has been known for a...

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

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PMID: 17668239
DOI: 10.1007/s00431-007-0568-y

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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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