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Article

Case report of a novel phenotype in 18q deletion syndrome.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie - 1 Jan 2000

Bohîlţea Roxana Elena, Cîrstoiu Monica Mihaela, Nedelea Florina Mihaela, Turcan Natalia, Georgescu Tiberiu Augustin, Munteanu Octavian, Baroş Alexandru, Istrate-Ofiţeru Anca Maria, Berceanu Costin

Abstract excerpt

The latest decades are characterized by an enormous progression in the field of human genetics. In consequences, for various phenotypic manifestations, genetic testing could identify a specific underlying cause. An estimated incidence for all types of 18q deletions is one in 55 000 births predominant on females. About 94% of cases with 18q deletion syndrome appearance are de novo, and the remaining 6% are the...

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Identifiers

PMID: 33817732
DOI: 10.47162/RJME.61.3.29
PMCID: PMC8112787

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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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