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

Chromosome instability and X‐ray hypersensitivity in a microcephalic and growth‐retarded child

1 Jul 1991

Abstract excerpt

We report on a microcephalic, growth-retarded newborn girl without major anomalies who has chromosome instability in lymphocytes and fibroblasts. Frequent involvement of bands 7p13, 7q34, 14q11, and 14q32 suggested the diagnosis of ataxia telangiectasia (AT) or a related disorder. Supportive evidence was radioresistant DNA synthesis in fibroblasts and radiation hypersensitivity of short-term lymphocyte cultures....

Read the complete abstract on PubMed

Topics

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

Share to Carcinogens and Genotoxicity Assessment
Share to DNA Repair Mechanisms
Share to Radiation Therapy and Dosimetry

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

Source

Identifiers

PMID: 1887849
DOI: 10.1002/ajmg.1320400109

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 · 11 closest

Chromosome instability and X‐ray hypersensitivity in a microcephalic and growth‐retarded childPMID 1887849Read ↗

Eleven polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndromeSemantic proximity Read ↗

Variants of Nijmegen breakage syndrome and ataxia telangiectasia.Semantic proximity Read ↗

Medulloblastoma With Adverse Reaction to Radiation Therapy in Nijmegen Breakage SyndromeSemantic proximity Read ↗

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.Semantic proximity Read ↗

Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?Semantic proximity Read ↗

Reduced induction of P53 protein by gamma-irradiation in ataxia telangiectasia cells without constitutional mutations in exons 5, 6, 7, and 8 of the p53 gene.Semantic proximity Read ↗

[A new syndrome of mental retardation and chromosomic instability in 3 siblings].Semantic proximity Read ↗

Four radiation hypersensitivity cases and their implications for clinical radiotherapy.Semantic proximity Read ↗

Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly.Semantic proximity Read ↗

An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasiaSemantic proximity Read ↗

Riyadh chromosome breakage syndrome: mental retardation with depigmentation of the skin and hair.Semantic proximity Read ↗

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