Incidence of major chromosomal abnormalities

K. Méhes, K. Bajnoczky

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

In the last 4 years, we have karyotyped a total of 322 probands with abnormal clinical signs or symptoms observed in association with chromosome anomalies. About half of the probands were neonates or infants. G- and C-banded mitoses from lymphocyte cultures were analyzed in each case. Ninety-two of the 322 patients (28.6%) had an abnormal karyotype. Seventy-six cases had simple trisomy or monosomy and 16 patients had structural aberrations. The rate of 25-30% positive identifications seems sufficient from a practical point of view. Stricter selection criteria would probably increase the risk of overlooking chromosome abnormalities, while wider criteria would increase the cost/efficiency ratio of cytogenetic laboratories considerably.

Original languageEnglish
Pages (from-to)75-76
Number of pages2
JournalClinical Genetics
Volume19
Issue number1
Publication statusPublished - 1981

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Chromosome Aberrations
Abnormal Karyotype
Monosomy
Trisomy
Incidence
Mitosis
Cytogenetics
Patient Selection
Signs and Symptoms
Chromosomes
Newborn Infant
Lymphocytes
Costs and Cost Analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Incidence of major chromosomal abnormalities. / Méhes, K.; Bajnoczky, K.

In: Clinical Genetics, Vol. 19, No. 1, 1981, p. 75-76.

Research output: Contribution to journalArticle

Méhes, K & Bajnoczky, K 1981, 'Incidence of major chromosomal abnormalities', Clinical Genetics, vol. 19, no. 1, pp. 75-76.
Méhes, K. ; Bajnoczky, K. / Incidence of major chromosomal abnormalities. In: Clinical Genetics. 1981 ; Vol. 19, No. 1. pp. 75-76.
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