A diagnostic survey of patients referred for chromosome analysis

Research output: Contribution to journalArticle

Abstract

Out of 692 patients referred for chromosome analysis because of abnormal clinical features, 199 (28.7%) had chromosomal abnormalities. In addition, assessment of the abnormal phenotypic features and the data of other (laboratory, X-ray, etc.) examinations revealed 25 (3.6%) single gene disorders, 25 (3.6%) recognizable syndromes or associations of unknown aetiology, and in 4 cases (0.6%) environmental agents were established as possible aetiological factors. Altogether of the 692 cases, 253 (36.5%) had a definitive diagnosis, while the remaining 439 were undiagnosed. These results suggest that (i) chromosome analysis is worthwhile if the patient has significant clinical abnormalities, and (ii) a request for chromosome analysis should be viewed as one step in syndrome identification, so that a normal karyotype should stimulate the physician to further efforts to establish a diagnosis.

Original languageEnglish
Pages (from-to)35-40
Number of pages6
JournalActa Paediatrica Academiae Scientiarum Hungaricae
Volume23
Issue number1
Publication statusPublished - 1982

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Chromosomes
Karyotype
Chromosome Aberrations
X-Rays
Physicians
Genes
Surveys and Questionnaires

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A diagnostic survey of patients referred for chromosome analysis. / Kosztolányi, G.

In: Acta Paediatrica Academiae Scientiarum Hungaricae, Vol. 23, No. 1, 1982, p. 35-40.

Research output: Contribution to journalArticle

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