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Article

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.

European journal of medical genetics - 1 Jan 2000

Souraty Noëlle, Sanlaville Damien, Chédid Rima, Le Lorc'h Marc, Maurin Marie-Laure, Ghanem Lola, Maalouf Sabine, Vekemans Michel, Mégarbané André

Abstract excerpt

We report on a baby girl from non-consanguineous Palestinian parents with intrauterine growth retardation, low birth weight, and developmental delay. She had a short stature, microcephaly, a prominent metopic suture, a glabellar haemangioma, exophthalmos, hypertelorism, upslanting palpebral fissures, horizontal nystagmus, flat nose, cleft lip and palate, a short neck, widely spaced nipples, umbilical hernia,...

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Identifiers

PMID: 17716964
DOI: 10.1016/j.ejmg.2007.06.001

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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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