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Biomedical subjects

F C Fraser

Publications and source records attributed to F C Fraser.

At least 19 recordsLinked to original sources
PubMed1990

Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10.

We studied a baby born with physical features suggestive of the aminopterin syndrome, but without exposure of the mother to aminopterin during pregnancy. G-banded chromosomes from peripheral blood lymphocytes had a normal 46,XX pattern. However, in 50 skin fibroblasts there was a normal female karyotype in 5 cells and 45 cells showed an apparently balanced reciprocal translocation involving the long arm of chromosome 5 (band q35) and the long arm of chromosome 10 (band q22). The relation of this mosaicism to the abnormal phenotype is unclear.

Abnormalities, Multiple↗
PubMed1990

Association between Alzheimer disease and amyotrophic lateral sclerosis?

We report two cases of Alzheimer disease (AD)--one of them familial--in which the patient also had amyotrophic lateral sclerosis (ALS), and one patient with familial AD who had a son with ALS. Three further cases of probable ALS were found in pedigrees of AD reported from the literature. It is proposed that this association is not coincidental, but may suggest an etiological factor in common.

Aged↗
PubMed1990

Recurrence risks for near relatives of children with sensori-neural deafness.

In a sample of children with sensori-neural deafness and no evidence of a syndrome, ototoxic exposure, or autosomal dominant or X-linked family history, seen in the Division of Medical Genetics of The Montreal Children's Hospital, the probability of a sibling being similarly affected was about 1 in 6, both in French-Canadian families and the remainder of the sample. The frequency of deafness of early onset was measured in the uncles and aunts of probands, and these figures were used to derive approximate recurrence risks for the offspring of probands (about 1 in 130, ignoring the possibility of autosomal dominant mutation) and for the offspring of the probands' unaffected sibs (about 1 in 250). A rough estimate of the number of autosomal recessive loci contributing to sensori-neural deafness is derived as 13.

Child↗
PubMed1989

Pectoralis major defect and Poland sequence in second cousins: extension of the Poland sequence spectrum.

We report on a patient with congenital absence of the left pectoralis major muscle, whose second cousin had the full Poland sequence. This suggests that isolated pectoralis major muscle defect should be included in the spectrum of anomalies characterized as the Poland sequence, postulated to result from disruption of blood supply in the embryonic subclavian and vertebral arteries, the site and degree of obstruction determining the sites and severity of the resulting anomalies. Very few cases are familial; in these the family pattern is compatible with an autosomal dominant mutant gene with reduced penetrance or delayed mutation.

Humans↗
PubMed1987

Epidemiological studies of neural tube defects in Newfoundland.

A 9-year survey of neural tube defects in Newfoundland showed (1) evidence for secular variation, with a peak in 1980, but no general downward trend as seen in some other populations; (2) significant geographic variation which did not correlate with hardness or nitrate content of the lake water; (3) a tendency for the proportion of females among anencephalic births to increase with increasing frequency of anencephaly among geographic regions. This supports previous evidence for a female-specific contribution to the causes of increased liability to neural tube defect.

Abortion, Spontaneous↗
PubMed1979

Genetic counseling: provision and reception of information.

To explore verbal communication between family and counselor, transcripts of 30 tape-recorded or observed genetic counseling sessions are analyzed qualitatively. In half the cases, available data did not allow counselors to give parents a single estimate of the recurrence rate. Moreover, limits on the language available for communicating small probabilities made common the use of nonnumerical statements about a family's chance of having an abnormal child. Counselees processed the factual information they were given, most commonly translating recurrence rates in ways that emphasized the uncertainties associated with them. They tended to view these rates in binary form and requested guidelines for their behavior, indicating uncertainty about how to proceed with reproductive decision-making. The findings suggest that strategies for processing information are an important element influencing parental perspectives on and approaches to the problems created by being at-risk and to possible courses of action.

Attitude to Health↗
PubMed1979

Genetic counseling--the postcounseling period: I. Parents' perceptions of uncertainty.

To investigate how parents who have had genetic counseling perceive the problems created by being at risk, transcripts of open-ended, semistructured follow-up interviews with 53 counselees were analyzed qualitatively. Rate information, though recalled accurately by parents considering further childbearing, was discounted as impersonal, and subjects overwhelmingly perceived the chance of recurrence in binary form -- it either will or will not happen. By processing rates this way, they simplified probabilistic information and shifted their focus to the implications of being at risk and the potential impact of that which might or might not occur. The many uncertainties they faced, the "consequences" of being at risk that parents felt had to be resolved during the decision-making process, fell into 3 major categories: uncertainty that arose because of the ambiguous impact and meaning of having an affected child; uncertainty about how to make a choice and how others would view it, the burden of decision-making; and uncertainty about their ability to fulfill their roles as parents. These issues were perceived as part of the problem to be resolved and were consolidated into "scenarios" in which the parents "tried out the worst." This analysis of counselees' perceptions of the problems created by being at genetic risk suggests that parents may process the disparate facts of their situation in common ways that emphasize their uncertainty, and it indicates that how parents perceive factual information may be more important in orienting their deliberations than what these facts (diagnosis, prognosis, risks) actually are.

Decision Making↗
PubMed1979

Genetic counseling -- the postcounseling period: II. Making reproductive choices.

Qualitative analysis of transcripts of follow-up interviews with 53 parents who had had genetic counseling was undertaken to characterize the process by which childbearing decisions were made and to determine how counselees resolved the problems created by being at risk. Although specific issues to be resolved varied with a parent's perception of his or her situation, all those who considered having subsequent children attempted to limit the uncertainties they faced and to neutralize those consequences perceived as most problematic. To do so, counselees uniformly inferred from factual information and experiences available to them how they could manage the possible consequences of taking a chance. Factors influencing a parent's ability to make a clear decision included the presence of a previous normal child, the diffusion of decision-making responsibility to others, and recognition that one had already managed the worst. When these "facts" could not be processed to provide a sense of coping, parents either decided against reproduction and took appropriate action or made a "non-decision" about reproduction by choosing to leave conception to chance. These various tactics allowed parents to create a "least-lose" option in terms of their child-bearing choices. This analysis of how parents make reproductive decisions, along with previous findings, suggests that being at risk both creates common problems and elicits common responses from counselees. Moreover, it highlights the importance of recognizing parents' perceptions of their situation to understand how their deliberations are structured and how factual information influences their ultimate choices.

Decision Making↗
PubMed1979

Stage of palate closure as one indication of "liability" to cleft palate.

A new inbred mouse strain, SW/Fr, developed from a random-bred SW stock has a 6% incidence of spontaneous cleft palate without cleft lip. SW/Fr mice close their palates comparatively late in development. After cortisone treatment, the mean of the distribution (mean time to reach palate stage 5) is shifted towards later gestational ages. There is no change in the variance of the distribution. These data lend further support to the hypothesis that cleft palate in mice may fit a model where a continuous distribution is separated into discontinuous parts by a developmental threshold, and that time of palate closure is an important component of liability to cleft palate.

Animals↗