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The Impact of Aneuploidy Upon Public Health: Mortality and Morbidity Associated with Human Chromosome Abnormalities

Data up to Jan 2025

Published1985
Citations91
References66

Total Citations Per Year

Abstract

References (66)

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use.

1977 • 495 citations

The syndromes of hydatidiform mole

1978 • 451 citations

Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13

1979 • 404 citations

Parthenogenic Origin of Benign Ovarian Teratomas

1975 • 385 citations

The syndromes of hydatidiform mole

1978 • 380 citations

A deletion in chromosome 22 can cause digeorge syndrome

1981 • 366 citations

Human embryonic and fetal death

1980 • 358 citations

Glossary of Genetics and Cytogenetics

1976 • 313 citations

Perspectives in mutation epidemiology: 3. Contribution of chromosome abnormalities to human morbidity and mortality and some comments upon surveillance of chromosome mutation rates

1983 • 281 citations

Population Cytogenetics: Studies in Humans

1978 • 279 citations

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

1982 • 238 citations

Cytogenetics and infertility in man*

1975 • 197 citations

Aneuploidy and ageing: chromosome studies on a random sample of the population using G-banding

1978 • 197 citations

The association of the DiGeorge anomalad with partial monosomy of chromosome 22

1982 • 191 citations

Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

1984 • 188 citations

Miller-Dieker syndrome: Lissencephaly andmonosomy 17p

1983 • 186 citations

Delayed sexual development: A study of 252 patients

1981 • 184 citations

Heritable fragile sites on human chromosomes

1981 • 180 citations

Dispermic origin of XY hydatidiform moles

1981 • 173 citations

Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.

1979 • 172 citations

Retinoblastoma and chromosome 13

1976 • 136 citations

Total aneuploidy and age-related sex chromosome aneuploidy in cultured lymphocytes of normal men and women

1977 • 124 citations

Complete and partial hydatidiform mole in Hawaii: cytogenetics, morphology and epidemiology

1982 • 123 citations

Morphology of early fetal deaths and their chromosomal characteristics

1985 • 122 citations

Marker (X)-Linked Mental Retardation

1983 • 111 citations

A Glossary of Genetics and Cytogenetics: Classical and Molecular

1968 • 104 citations

Trisomy 21 (Down Syndrome) Research Perspectives

1981 • 101 citations

The tricho-rhino-phalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities?

1984 • 85 citations

Screening for fra(X)(q) in a population of mentally retarded males

1983 • 77 citations

Chromosome Investigations of a Small Isolated Human Population: Chromosome Abnormalities and Distribution of Chromosome Counts According to Age and Sex Among the Population of Tristan Da Cunha

1965 • 76 citations

Cytogenetics of aborters and abortuses

1978 • 69 citations

Severely retarded children in Quebec: prevalence, causes, and care.

1973 • 57 citations

Perspectives in mutation epidemiology, 6

1983 • 57 citations

Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B: a double-blind study.

1984 • 56 citations

PREVALENCE OF CHROMOSOME ABNORMALITIES DURING HUMAN GESTATION AND IMPLICATIONS FOR STUDIES OF ENVIRONMENTAL MUTAGENS

1981 • 52 citations

Sister chromatid exchanges and aging

1979 • 51 citations

Chromosome studies at the paediatric necropsy

1978 • 51 citations

A possible association of long Y chromosomes and fetal loss

1977 • 50 citations

Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause

1982 • 49 citations

Mental Subnormality in North-East Scotland

1968 • 45 citations

Large Y chromosome (Yq+) and increased risk of abortion

1978 • 44 citations

Cytogenetic studies in 100 couples with recurrent spontaneous abortions.

1980 • 44 citations

Langer-Giedion syndrome and deletion of the long arm of chromosome 8

1981 • 44 citations

Trisomy 21 (Down syndrome) : research perspectives

1981 • 43 citations

200 Infertile Males: Correlation of Chromosome, Histological, Endocrine and Clinical Studies

1975 • 41 citations

Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions

1979 • 40 citations

Sex Chromosome Aneuploidy: Prospective Studies on Children

1980 • 40 citations

Chromosome variation in perinatal mortality: a survey of 500 cases.

1984 • 39 citations

Children with Sex Chromosome Aneuploidy: Follow-Up Studies

1983 • 36 citations

An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage.

1978 • 33 citations

Anatomic and chromosomal anomalies in 944 induced abortuses

1978 • 32 citations

Chromosome abnormalities in 150 couples with multiple spontaneous abortions

1982 • 31 citations

Incidence of chromosomal rearrangements in couples with reproductive loss

1980 • 28 citations

The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School.

1971 • 22 citations

Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population.

1984 • 20 citations

High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements

1983 • 18 citations

A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls

1977 • 16 citations

Cytogenetic findings in 318 couples with repeated spontaneous abortion: A review of experience in British Columbia

1984 • 14 citations

The effect of variant chromosomes on reproductive fitness in man

1982 • 14 citations

Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality

1984 • 13 citations

MENTAL RETARDATION IN CHILDREN

1953 • 12 citations

Size of Y chromosome not associated with abortion risk.

1983 • 12 citations

Mental retardation in children : an epidemiological and etiological study of mentally retarded children born 1959-1970 in a northern Swedish county

1982 • 10 citations

Brief report: Chromosomal analysis of perinatal death in Macaca mulatta and Macaca radiata

1983 • 5 citations

Children with sex chromosome aneuploidy : follow-up studies : proceedings of a conference held in Toronto, Ontario, Canada

1982 • 2 citations

Deleted Work

1955 • 0 citations

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