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Article

Trisomy 21 mosaicism in two subjects from two generations.

Annales de genetique - 1 Jan 1992

Casati A, Giorgi R, Lanza A, Raimondi E, Vagnarelli P, Mondello C, Ghetti P, Piazzi G, Nuzzo F

Abstract excerpt

In the course of a chromosome fragility investigation on the cancer prone hereditary disorder xeroderma pigmentosum, a low proportion of cells with a 47,XY,+21 karyotype was found in lymphocyte cultures of a patient not showing any Down syndrome symptom. The presence of trisomy 21 mosaicism was demonstrated also in peripheral blood of the healthy father and confirmed by "chromosome painting" that allowed a rapid...

Topics

Adult
Blotting, Southern
Centromere
Chromosomes, Human, Pair 21
DNA Probes
Down Syndrome
Humans
In Situ Hybridization, Fluorescence
Lymphocytes
Male
Mitosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mosaicism

Pedigree

Phenotype

Trisomy

Xeroderma Pigmentosum

Source

Identifiers

PMID: 1296525

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1296525-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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