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Article

20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome.

Clinical genetics - 1 Jun 1992

Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G

Abstract excerpt

We report two related patients, presenting duplication 20p, with a characteristic phenotype including normal growth pattern, mental and psychomotor retardation, reduced motor coordination, poor language development, round face and prominent cheeks, vertebral and dental anomalies, and renal malformations. Familial chromosome analysis showed a balanced translocation t(20;21)(p11;q22) in three members of the family....

Topics

Adult
Chromosomes, Human, Pair 20
Chromosomes, Human, Pair 21
Female
Humans
Intellectual Disability
Karyotyping
Male
Middle Aged
Multigene Family
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Syndrome

Translocation, Genetic

Trisomy

Source

Identifiers

PMID: 1623622
DOI: 10.1111/j.1399-0004.1992.tb03398.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1623622-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome.PMID 1623622Read ↗

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