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J. Hamerton, N. Canning, M. Ray, Shelley Smith (1975)
A cytogenetic survey of 14,069 newborn infantsClinical Genetics, 8
(1977)
A chromosome survey of 13,751 male newborns. Populution Cytogenetics. Studies in Humans
Dharmdeo Singh (1977)
Cytogenetic Study of Individuals Suspected of Chromosome AnomaliesClinical Pediatrics, 16
M. Higurashi, K. Iijima, U. Ikeda (1979)
Chromosome survey of newborn infants in Tokyo: follow-up study for XYY.Birth defects original article series, 15 1
H. Evans (1977)
Chromosome anomalies among livebirths.Journal of Medical Genetics, 14
D. Moore, D. Tattoni, R. Ruvalcaba, G. Limbeck, V. Kelley (1976)
Studies of anabolic steroidsThe Journal of Pediatrics, 90
R. Verma, H. Dosik (1980)
Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 casesClinical Genetics, 17
D. Moore, D. Tattoni, R. Ruvalcaba, G. Limbeck, V. Kelley (1977)
Studies of anabolic steroids. VI. Effect of prolonged administration of oxandrolone on growth in children and adolescents with gonadal dysgenesis.The Journal of pediatrics, 90 3
P. Jacobs, M. Melville, S. Ratcliffe, A. Keay, J. Syme (1974)
A cytogenetic survey of 11,680 newborn infantsAnnals of Human Genetics, 37
(1978)
Queensland Demography. Cat. No. 3101.3 Brisbane
(1977)
The frequency secutive newborn studies - differences between studies - results by sex and by severity of phenotypic involvement
K. Méhes, K. Bajnóczky (1981)
Incidence of major chromosomal abnormalitiesClinical Genetics, 19
Aneuploidy and structural chromosome rearrangements comprise a significant group of abnormalities in the general population. The true incidence of such abnormalities can be obtained by large research studies of consecutive newborns. In practice, the observed incidence of such chromosome abnormalities is obtained by karyotyping subjects who present for clinical reasons. The difference between the observed clinically indicated rates and the assumed rate (by comparison with data from consecutive newborn studies) would allow the estimation of the unrecognised chromosome abnormality load in the general population. The difference between these two rates would provide valuable data concerning the appropriateness of selection techniques for routine chromosome analysis. This paper reports such a study, from Queensland, Australia. A total population 5-year survey (1976–1980) of the diagnosed chromosome abnormalities in this unselected primary population of 2.2 million people is reported. Five hundred and eighty-nine chromosome abnormalities were detected in a consecutive series of 6092 karyotypes performed (9.7%). This figure is significantly lower than that found in most other reported series where case selection for karyotyping is determined by clinical criteria. In this current study the annual diagnostic rate for chromosome abnormalities was 5.41 per 100,000 of the general population. Cumulative frequency histograms for all types of chromosome abnormality, by age, are presented: In current practice, 32% of chromosome abnormalities are not diagnosed until adult life. Fifty percent of cases of chromosome abnormality (of all types) remain undiagnosed by the age of 1 year, in spite of a relatively liberal acceptance rate on the part of laboratories offering routine karyotyping services. It is concluded that a positive diagnostic rate greater than 10%, in routine chromosome laboratories, probably indicates that more than half the true cases of chromosome abnormality in a population are being missed.
Clinical Genetics – Wiley
Published: Aug 1, 1982
Keywords: Aneuploidy; chromosome abnormalities; population studies; sex chromosomes
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