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M T Mulcahy

Publications and source records attributed to M T Mulcahy.

34 records · Page 2Linked to original sources
PubMed1979

Down's syndrome in Western Australia: cytogenetics and incidence.

235 cases of Down's syndrome were ascertained in a 10-year study of Down's syndrome in Western Australia. Although cytogenetic studies performed on 222 subjects confirmed that 95% of cases were trisomic due to nondisjunction, 4% were trisomic due to translocation, and 1% were mosaic, the ratio of inherited/sporadic translocations differed from that usually reported. Comparison of the results with those of an earlier Australian survey of Down's syndrome demonstrated a real fall in the incidence of Down's syndrome in Australia but no significant change in maternal age-specific incidences.

Adolescent↗
PubMed1979

Down's syndrome in Western Australia: mortality and survival.

An epidemiological investigation of 231 cases of Down's Syndrome born in Western Australia between 1966 and 1976 confirmed the importance of congenital heart disease as a determinant of early mortality. An unexplained and hitherto unreported high incidence of Sudden Death in Infancy Syndrome if survival rates with those of other investigators show, that mortality amongst cases of Down's Syndrome with no congential heart defect has decreased and longevity is no longer a rate occurrence. As a result of these changes, and despite a demonstrable fall in the incidence of Down Syndrome in Western Australia, the prevalence of the condition is expected to rise.

Australia↗
PubMed1979

Trisomy 3q : two clinically similar but cytogenetically different cases.

The clinical and cytogenetic findings in two unrelated infants both trisomic for differing amounts of the long arm of chromosome 3 are described and discussed in relation to previously reported cases and the existence of a distinct syndrome of trisomy 3q is confirmed. Assignment of the gene for human red blood cell galactose-1-uridyltransferase is discussed.

Abnormalities, Multiple↗
PubMed1978

Another case of 9P-syndrome.

This paper discusses the value of an International Repository of Chromosomal Abnormalities and Variants as a means of communication and case finding. A further case of 9p- is described. The clinical and cytogenetic findings confirm the existence of a clinical entity which in many respects is the opposite of the 9p trisomy syndrome.

Abnormalities, Multiple↗
PubMed1977

The 11q-- syndrome: another case report.

The clinical findings and developmental progress of a female infant with karyotype 46,XX,del(11)(q23) are described. Comparison is made with five other reported cases, and the suggestion of a new syndrome del 11q--is supported.

Chromosome Aberrations↗
PubMed1977

45,X/47,XYY mosaicism.

This paper describes and discusses the clinical and cytogenetic findings in an infant with an unusual sex chromosome abnormality 45X/47XYY.

Disorders of Sex Development↗