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S Bundey

Publications and source records attributed to S Bundey.

At least 73 records · Page 4Linked to original sources
PubMed1985

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

A DNA marker C7, localised Xp21.1-Xp21.3, has been studied in kindreds segregating for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). In DMD families four crossovers were observed in 38 informative meioses between C7 and the DMD locus (theta = 0.12, z max = +2.72). In BMD families no recombinants were observed in the 16 informative meioses studied. These data are consistent with the localisation of the mutations in these disorders being in the same region of Xp21. Studies in families also segregating for the DNA marker 754 support the previously reported physical order of these loci as X centromere-754-DMD-BMD-C7-X telomere. A recombination fraction of 0.11 (z max = +5.58) was found between DMD-754 by combining our previously published data with the data presented here. C7 and 754 thus provide good bridging markers for the diagnosis of DMD and BMD.

Chromosome Banding↗
PubMed1985

Is it possible to make a clinical diagnosis of the fragile X syndrome in a boy?

Clinical observations were made on a series of 156 boys with severe mental retardation, before cytogenetic results were known. The clinical features that helped to distinguish the 14 boys with the fragile X chromosome from those without were: head circumference over the 50th centile, postpubertal testicular volume over the 50th centile, and an IQ between 35 and 70. If the above clinical features were all present, then the chance of finding the fragile X chromosome was 1 in 3.6, whereas the chance of finding this abnormality in any boy with severe idiopathic mental retardation, regardless of his clinical features, was 1 in 9. Two boys with fragile X syndrome did not, however, possess any of the above clinical features. Moreover, some of the other retarded boys had clinical features of the syndrome, or an X linked pedigree, but lacked the chromosome abnormality.

Birth Weight↗
PubMed1985

A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.

This paper describes a community based study of 156 boys with idiopathic, severe mental retardation. The boys were examined and a pedigree taken before the cytogenetic results were known. The prevalence of the fragile X chromosome among this group of boys was high: 9% in the whole group and 11% after 39 boys with specific features had been excluded. The fragile X syndrome is therefore an important cause of idiopathic, severe retardation. Its clinical features of large head, large testes, and IQ in the 35 to 70 range were often but not always present in the 14 boys identified in this study. In the whole group, the recurrence of severe mental subnormality was high: 1 in 8 for brothers and 1 in 25 for sisters. This high recurrence was partly due to the fragile X syndrome, partly to X linked mental retardation not accompanied by cytogenetic abnormalities, and partly due to autosomal recessive disease. Autosomal recessive disease was perhaps higher in the West Midlands than elsewhere (such as British Columbia, for example 1) because of the disproportionate contribution by Asian immigrants.

Adolescent↗
PubMed1984

A study of retinitis pigmentosa in the City of Birmingham. I Prevalence.

Using multiple sources, an attempt was made to ascertain all symptomatic cases of retinitis pigmentosa living in the City of Birmingham in June 1978. These methods revealed a prevalence for all ages of 1 in 4869 and a prevalence in the age group 45 to 64 years of 1 in 3195. There was a higher prevalence than expected among young Muslims with consanguineous parents. However, the most accurate prevalence of uncomplicated retinitis pigmentosa among adults was considered to be that found in an outpatient clinic serving adult diabetics, namely, six patients in a clinic population of 8000 to 10 000.

Adolescent↗
PubMed1984

A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity.

This is a study of 138 index patients with retinitis pigmentosa (RP) and their families, in which the selection of index patients was solely on the basis of their residence in Birmingham. Clinical analysis showed that severe disease was as likely to indicate dominant or non-genetic RP as to indicate recessive disease, and that each of three genetic types of uncomplicated RP could probably be divided into two entities. Autosomal dominant RP accounted for at least 22% of index patients but this was likely to be an underestimate because of the low penetrance of the disease. Autosomal recessive disease accounted for not more than 10% of index patients and its rarity was indicated by a high consanguinity rate. Recognisable X linked disease occurred in about 14% of index patients, a similar figure to other studies. The 37% of patients with uncomplicated RP and no obviously affected relative have either autosomal dominant RP or non-genetic RP; it is difficult to know the relative proportions of each. The risks for descendants of patients with recessive disease are clear. The risks of symptomatic RP in the offspring of patients who do, or who might have, dominant RP range from 1 in 2 to 1 in 37 according to the family history and the severity of the RP.

Adolescent↗
PubMed1983

Spontaneous expression of the chromosome fragile site fra(10)(q25).

We report the spontaneous expression of the chromosome fragile site at 10q25 in a child with progressive cerebellar ataxia and in her phenotypically normal brother and father. Expression of this fragile site was increased in all three individuals by addition of bromodeoxyuridine (BrdU) to the medium. This fragile site has previously been described only following growth of cells in BrdU.

Adolescent↗
PubMed1982

Survivors of neuroblastoma and ganglioneuroma and their families.

The main purpose of this study was to see if the offspring of surviving neuroblastoma, ganglioneuroblastoma, or ganglioneuroma patients have themselves a risk for developing tumours. No such risk was found. There was a total of 45 liveborn children who were all healthy. These children have passed through about 37 lifetimes of risk for developing neuroblastoma and about six lifetimes of risk for developing ganglioneuroma. No excess of cancers was found among parents and sibs. It was interesting that there was a large female excess (35:12) among these survivors. One factor which may give rise to a better prognosis in females is the tendency of their tumours to mature to benign forms.

Adult↗
PubMed1982

Family studies on the chromosomal location of the retinoblastoma gene (Rb-1).

The segregation of chromosomes 13 distinguishable by Q band fluorescent polymorphisms has been studied in three families with retinoblastoma. The recombination fraction for two of these families and four families previously reported did not differ significantly from 50%. Since a high recombination fraction has been predicted from chiasma frequency between the centromere of chromosome 13 and 13q14 these results neither confirm nor refute the location of the autosomal dominant gene predisposing to retinoblastoma in 13q14. The use of fluorescent markers is not suitable for early recognition of gene carriers in families with retinoblastoma.

Adolescent↗
PubMed1982

Clinical evidence for heterogeneity in myotonic dystrophy.

In a study of 35 index patients who developed myotonic dystrophy between birth and 30 years (neonatal cases aware excluded), 30 could be categorised into two clinical types. The 13 type 1 patients had a more severe limb weakness, of patchy distribution, associated with proportional facial weakness. The 17 type 2 patients had a milder and more diffuse limb weakness; their facial weakness, however, was very pronounced and preceded the limb weakness by several years. All but one of the 25 affected relatives who were examined belonged to the same category as their index relative, providing evidence that the cause of the clinical heterogeneity was genetic. Subsequent observations showed that mental retardation, male infertility, and neonatally affected offspring were commoner in type 2 patients. Congenital myotonic dystrophy could occur among the offspring of either affected males or affected females, but neonatal symptoms were confined to the offspring of affected women. The overall risk for having neonatally affected offspring for this prospective study of young adult patients was 7 in 38, and for the offspring of affected females 7 in 27. The risk for having a surviving child whose mental or physical handicap or both required special schooling was 1 in 12 for males and 4 in 27 for females.

Adult↗
PubMed1981

A genetic study of Duchenne muscular dystrophy in West Midlands.

A study of Duchenne muscular dystrophy has shown an approximate prevalence of the disease among schoolboys to be 1 in 4000. Fifty-four families were available for genetic studies. In 19 families there were further affected cases and in 34 families the index patients was an isolated case. The proportion of affected brothers was 0.22 (11 of 50). There were 142 female relatives who had a risk of 1 in 10 or worse of being carriers: 66 of these were aged under 16. As genetic counselling is being increasingly requested by these families, and expansion of genetic services is envisaged. A genetic register, with frequent contact with families by ancillary staff, similar to that in Edinburgh, is considered desirable for the West Midlands.

England↗
PubMed1979

Serum creatine kinase levels in pubertal, mature, pregnant, and postmenopausal women.

In order to obtain control values for the diagnosis of carriers of Duchenne muscular dystrophy, creatine kinase (CK) estimations were performed in two laboratories on 148 healthy teenage girls (of whom 38 were premenarchal and 110 postmenarchal), 133 healthy mature women, 124 pregnant women, and 37 postmenopausal women. These levels were highest in the premenarchal teenagers, and became successively lower in the postmenarchal teenagers, the mature women, and the pregnant women, so that the mean level of the pregnant women was less than half that of the teenagers. The CK levels then rose again after the menopause. If the distribution of CK levels in adult non-pregnant women had been taken as controls for teenagers who were possible carriers for Duchenne muscular dystrophy, then one third of those teenagers classified as carriers would have been so classified incorrectly.

Adolescent↗