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Article

[Clinical and cytogenetic diagnosis of Martin-Bell syndrome].

Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952) - 1 Jan 1991

Kupriianova T A, Gor'kova S A, Marincheva G S

Abstract excerpt

A total of 368 patients aged 1 year 11 months to 35 years with oligophrenia were examined cytogenetically. Out of 58 boys with a typical disease picture, the fragile X chromosome (fra-X) was revealed in 57. In all the cases, the syndrome could be diagnosed clinically before chromosomal analysis was made. In a group of children with undifferentiated oligophrenia including those with the sex-linked inheritance...

Topics

Adolescent
Adult
Child
Child, Preschool
Diagnosis, Differential
Female
Fragile X Syndrome
Genetic Carrier Screening
Humans
Infant
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lymphocytes

Male

Phenotype

X Chromosome

Source

Identifiers

PMID: 1661516

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1661516-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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[Clinical and cytogenetic diagnosis of Martin-Bell syndrome].PMID 1661516Read ↗

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