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Biomedical subjects

M Creasy

Publications and source records attributed to M Creasy.

7 recordsLinked to original sources
PubMed1991

A family with three sisters with the 4p- syndrome, originally reported as suffering from the Smith-Lemli-Opitz syndrome.

The authors further describe investigations of a family originally reported by Bundey & Smyth in 1974 with a diagnosis of the Smith-Lemli-Opitz syndrome. Chromosome studies performed for the fourth time revealed that the mother had a presumptive t(4;22) translocation. The importance of reviewing earlier diagnoses, including repeating the chromosome studies if indicated, in order to arrive at a more accurate diagnosis is stressed. It is also important to provide the cytogenetics laboratory with clues to any possible clinically-recognisable chromosome syndrome, and to be prepared to examine the chromosomes of the parents of the affected case, even if the patient's karyotype appears normal. In this particular family, the correct diagnosis in the affected girls led to a realization that their brother had a 50% risk of producing unbalanced offspring.

Adolescent↗
PubMed1976

Maternal factors associated with fetal chromosomal anomalies in spontaneous abortions.

The effect is described of maternal factors on the proportion of fetal chromosomal anomalies in a series of 2620 spontaneous abortions, of which 992 specimens were karyotyped. Maternal age was the most important factor associated with a rise in the proportion abnormal, followed by Social Class I or II and the use of oral contraception before conception. The problem of extrapolating from the proportion abnormal to absolute incidence of anomalies is discussed. In the case of increasing maternal age, the evidence suggests that the rise in incidence of spontaneous abortions with age is accounted for by an increased incidence of chromosomally abnormal fetuses. In the case of high social class and a history of oral contraception, the evidence on incidence is scanty and the rise in the proportion abnormal may either reflect a decrease in the abortion rate of chromosomally normal fetuses, or a small increase in the incidence of lethal chromosomal anomalies.

Abortion, Spontaneous↗
PubMed1975

Previous reproductive history in mothers presenting with spontaneous abortions.

Information on the previous reproductive history of 3467 mothers presenting with a spontaneous abortion is compared with that of a control series presenting with a livebirth. In 1384 abortions the chromosome constitution of the fetal products was determined. The mothers who had delivered a chromosomally normal abortion more often had a history of previous repeated abortions, while those of chromosomally abnormal abortions tended to have fewer repeated abortions but an excess of previous viable children with Down's syndrome. Data are also presented on 23 mothers with two spontaneous abortions of known karyotype; these, together with similar data obtained elsewhere, made it possible to estimate an overall rate of recurrence of chromosome defects in conceptions of the same parents, and the probability that affected fetuses will survive to a viable stage in pregnancy. The clinical and genetic implications of the findings are briefly discussed.

Abortion, Habitual↗