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

Riyadh chromosome breakage syndrome: mental retardation with depigmentation of the skin and hair.

Journal of child neurology - 1 Apr 1992

Ozand P T, Waghray M, Cook J D, Sheth K, Gascon G G

Abstract excerpt

A 20-month-old infant with "silvery-blond" hair color, widespread confettilike depigmentation of the skin, and mental retardation was found to have, in lymphocytes and fibroblast cultures, increased spontaneous chromosome breaks and breaks induced by both mitomycin and gamma-irradiation. The sister chromatid exchange frequency was normal. This child probably represents a new chromosome breakage syndrome.

Topics

Albinism
Brain Diseases, Metabolic
Chromosome Aberrations
Chromosome Disorders
Chromosome Mapping
Female
Humans
Infant
Intellectual Disability
Neurologic Examination
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1588019
DOI: 10.1177/08830738920070011211

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1588019-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Riyadh chromosome breakage syndrome: mental retardation with depigmentation of the skin and hair.PMID 1588019Read ↗

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

Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome.Semantic proximity Read ↗

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

Chromosome instability and X‐ray hypersensitivity in a microcephalic and growth‐retarded childSemantic proximity Read ↗

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.Semantic proximity Read ↗

The chromosome-breakage syndromes: rare disorders that provide models for studying somatic mutation.Semantic proximity Read ↗

DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.Semantic proximity Read ↗

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