Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Non-random distribution of spontaneous chromosome aberrations in two Bloom Syndrome patients.

Hereditas - 1 Jan 1995

Fundia A, Gorla N, Larripa I

Abstract excerpt

The distribution of breakpoints involved in spontaneous chromosome aberrations (CA) was analyzed in lymphocytes from a family with Bloom's Syndrome (BS) and 9 healthy individuals. Standard and G-banded metaphases from each individual were analyzed to allow the identification of the breakpoints involved in spontaneously occurring chromosome aberrations. A total of 85 breakpoints in BS patients, 17 in their parents...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acute Disease
Share to Adolescent
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Banding

Share to Genetic Predisposition to Disease

Share to Karyotyping

Share to Leukemia, Myeloid

Share to Lymphoma

Source

Identifiers

PMID: 8537239
DOI: 10.1111/j.1601-5223.1995.00239.x

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Non-random distribution of spontaneous chromosome aberrations in two Bloom Syndrome patients.PMID 8537239Read ↗

A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.Semantic proximity Read ↗

Three new BLM gene mutations associated with Bloom syndrome.Semantic proximity Read ↗

Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability.Semantic proximity Read ↗

The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?Semantic proximity Read ↗

Increased rate of spontaneous mitotic recombination in T lymphocytes from a Bloom's syndrome patient using a flow-cytometric assay at HLA-A locus.Semantic proximity Read ↗

p53 mutation in fresh lymphocytes, B-lymphoblastoid cell lines and their transformed cell lines originating from Bloom syndrome patients.Semantic proximity Read ↗

Chromosome fragility and predisposition to childhood malignancies.Semantic proximity Read ↗

The spontaneous frequency of chromosomal aberrations and sister-chromatid exchanges in cultured peripheral lymphocytes of a single blood donor sampled more than 200 times.Semantic proximity Read ↗

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.Semantic proximity Read ↗

“Balanced” karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parentsSemantic proximity Read ↗

Microsatellite instability in B-cell lymphoma originating from Bloom syndrome.Semantic proximity Read ↗

Cytogenetic Monitoring in Shwachman-Diamond SyndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.