A diaphragma rendellenességek genetikai vizsgálata.

Translated title of the contribution: Genetic study of diaphragmatic defects

E. Czeizel, M. Kovács

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

The occurrence of specific and nonspecific congenital anomalies was determined in first degree relatives of index patients with congenital diaphragmatic defects who were born in Hungary between 1970 and 1979 and were ascertained through a population-based registry. The cases were grouped into Bochdalek types (N = 156), other types (N = 26), unclassified types (N = 55), and multiple congenital anomalies (MCA) cases including those with congenital diaphragmatic defects (N = 96). The sib occurrence in the Bochdalek type was 0.9% (taking into consideration also the unclassified cases or the total material, it was 0.5% or 0.4%, respectively). Specific familial clusters were not found in other types. Neural tube defects were detected in 1.8% of sibs in the total material and 2.4% in MCA cases.

Original languageHungarian
Pages (from-to)1193-1195
Number of pages3
JournalOrvosi Hetilap
Volume131
Issue number22
Publication statusPublished - Jun 3 1990

Fingerprint

Neural Tube Defects
Hungary
Registries
Population
Congenital Diaphragmatic Hernias

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A diaphragma rendellenességek genetikai vizsgálata. / Czeizel, E.; Kovács, M.

In: Orvosi Hetilap, Vol. 131, No. 22, 03.06.1990, p. 1193-1195.

Research output: Contribution to journalArticle

Czeizel, E & Kovács, M 1990, 'A diaphragma rendellenességek genetikai vizsgálata.', Orvosi Hetilap, vol. 131, no. 22, pp. 1193-1195.
Czeizel, E. ; Kovács, M. / A diaphragma rendellenességek genetikai vizsgálata. In: Orvosi Hetilap. 1990 ; Vol. 131, No. 22. pp. 1193-1195.
@article{d4d71463929640059a8fa750bb74e004,
title = "A diaphragma rendelleness{\'e}gek genetikai vizsg{\'a}lata.",
abstract = "The occurrence of specific and nonspecific congenital anomalies was determined in first degree relatives of index patients with congenital diaphragmatic defects who were born in Hungary between 1970 and 1979 and were ascertained through a population-based registry. The cases were grouped into Bochdalek types (N = 156), other types (N = 26), unclassified types (N = 55), and multiple congenital anomalies (MCA) cases including those with congenital diaphragmatic defects (N = 96). The sib occurrence in the Bochdalek type was 0.9{\%} (taking into consideration also the unclassified cases or the total material, it was 0.5{\%} or 0.4{\%}, respectively). Specific familial clusters were not found in other types. Neural tube defects were detected in 1.8{\%} of sibs in the total material and 2.4{\%} in MCA cases.",
author = "E. Czeizel and M. Kov{\'a}cs",
year = "1990",
month = "6",
day = "3",
language = "Hungarian",
volume = "131",
pages = "1193--1195",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "22",

}

TY - JOUR

T1 - A diaphragma rendellenességek genetikai vizsgálata.

AU - Czeizel, E.

AU - Kovács, M.

PY - 1990/6/3

Y1 - 1990/6/3

N2 - The occurrence of specific and nonspecific congenital anomalies was determined in first degree relatives of index patients with congenital diaphragmatic defects who were born in Hungary between 1970 and 1979 and were ascertained through a population-based registry. The cases were grouped into Bochdalek types (N = 156), other types (N = 26), unclassified types (N = 55), and multiple congenital anomalies (MCA) cases including those with congenital diaphragmatic defects (N = 96). The sib occurrence in the Bochdalek type was 0.9% (taking into consideration also the unclassified cases or the total material, it was 0.5% or 0.4%, respectively). Specific familial clusters were not found in other types. Neural tube defects were detected in 1.8% of sibs in the total material and 2.4% in MCA cases.

AB - The occurrence of specific and nonspecific congenital anomalies was determined in first degree relatives of index patients with congenital diaphragmatic defects who were born in Hungary between 1970 and 1979 and were ascertained through a population-based registry. The cases were grouped into Bochdalek types (N = 156), other types (N = 26), unclassified types (N = 55), and multiple congenital anomalies (MCA) cases including those with congenital diaphragmatic defects (N = 96). The sib occurrence in the Bochdalek type was 0.9% (taking into consideration also the unclassified cases or the total material, it was 0.5% or 0.4%, respectively). Specific familial clusters were not found in other types. Neural tube defects were detected in 1.8% of sibs in the total material and 2.4% in MCA cases.

UR - http://www.scopus.com/inward/record.url?scp=0025699131&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025699131&partnerID=8YFLogxK

M3 - Article

VL - 131

SP - 1193

EP - 1195

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 22

ER -