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Article

[Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18].

Bollettino della Societa italiana di biologia sperimentale - 1 Apr 1992

Vivarelli R, Paolieri M, Anichini C, Scarinci R, Berardi R, Rosaia L, Pucci L

Abstract excerpt

Five cases with different abnormalities of chromosome 18 are described: one case with trisomy 18, two cases with ring 18, one case with partial trisomy 18q and one case with a mosaic 18p-/iso 18q. The karyotypes of the parents were normal. Cytogenetic analysis was performed on PHA stimulated blood lymphocytes. GTG, QFQ, MTX banding techniques were used. Karyotype-phenotype correlations are made. All patients...

Topics

Abnormalities, Multiple
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 18
Female
Humans
Infant
Infant, Newborn
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Karyotyping

Male

Phenotype

Source

Identifiers

PMID: 1463601

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1463601-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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[Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18].PMID 1463601Read ↗

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