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Biomedical subjects

J C Barber

Publications and source records attributed to J C Barber.

At least 37 records · Page 2Linked to original sources
PubMed1996

Fertility, reproductive outcomes, and health of offspring, of patients treated for Hodgkin's disease: an investigation including chromosome examinations.

Reproductive outcomes and health of offspring were investigated in 340 patients with Hodgkin's disease first treated at Mount Vernon Hospital, Middlesex, England, at ages under 40 (females) or 45 (males) during 1970-91. Information on offspring was obtained from case-notes and postal questionnaires to the patients. Eleven men and 16 women who had conceived any children after treatment were then interviewed. There was no excess of stillbirths, low birthweight or cogenital malformations, and no cancers have occurred in the 49 offspring after treatment. There was a significant excess of twins, compared with national expectations, in offspring of female patients (RR = 8.52, P = 0.025). Aggregation of series from the literature also showed an excess of twins. Chromosomes from cultures of peripheral lymphocytes from 45 children born to 25 patients (11 men and 14 women) after treatment were examined for numerical abnormalities and for structural abnormalities at the 550 or greater band level of resolution. All were normal except in one child with Down's syndrome (47, XY, +21), for whom we found the origin of the trisomy was from the parent without Hodgkin's disease. The chromosome constitution was also abnormal in one miscarriage (69, XXY; originating from the parent without Hodgkin's disease) and one termination (45, X; for with the parental origin could not be determined) after treatment. The study adds to previous questionnaire data and for the first time provides data also from chromosome analysis, that offspring of patients treated in adulthood for Hodgkin's disease are not at greatly raised risk of genotoxic or other adverse outcomes as a consequence of their parent's treatment. The numbers of offspring assessed in the literature remains small, however, and surveillance of larger numbers of subjects is needed to enable reliable treatment-specific analyses.

Adult↗
PubMed1996

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.

Transient neonatal diabetes mellitus (TNDM) is a rare form of childhood diabetes which usually resolves in the first 6 months of life but which predisposes to type 2 diabetes of adult onset. We recently reported paternal uniparental isodisomy of chromosome 6 (UPD6) in two children with TNDM and proposed that there may be an imprinted gene important in the aetiology of diabetes on chromosome 6. We now describe two unrelated families which independently suggest that the gene is imprinted, is paternally expressed and maps to 6q22-q23. One family has a duplication while the other, with familial TNDM, shows linkage to a marker in this region.

Adult↗
PubMed1996

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.

Fluorescence in situ hybridisation (FISH) and conventional chromosome analysis were performed on a series of 52 patients with classical Williams-Beuren syndrome (WBS), suspected WBS, or supravalvular aortic stenosis (SVAS). In the classical WBS group, 22/23 (96%) had a submicroscopic deletion of the elastin locus on chromosome 7, but the remaining patient had a unique interstitial deletion of chromosome 11 (del(11)(q13.5q14.2)). In the suspected WBS group 2/22 (9%) patients had elastin deletions but a third patient had a complex karyotype including a ring chromosome 22 with a deletion of the long arm (r(22)(p11-->q13)). In the SVAS group, 1/7 (14%) had an elastin gene deletion, despite having normal development and minimal signs of WBS. Overall, some patients with submicroscopic elastin deletions have fewer features of Williams-Beuren syndrome than those with other cytogenetic abnormalities. These results, therefore, emphasise the importance of a combined conventional and molecular cytogenetic approach to diagnosis and suggest that the degree to which submicroscopic deletions of chromosome 7 extend beyond the elastin locus may explain some of the phenotypic variability found in Williams-Beuren syndrome.

Child↗
PubMed1995

t(8;21) myelodysplasia, an early presentation of M2 AML.

The reciprocal translocation of genetic material between chromosomes 8 and 21, t(8;21), is usually restricted to cases of acute myeloid leukaemia (AML). Cases of AML with t(8;21) exhibit characteristic dysplastic features in myeloid and erythroid lineages with reduction in megakaryocytes. We report details of three patients presenting with myelodysplastic features; two had a typical t(8;21), and the third had a variant t(8;21) translocation. We discuss the significance of t(8;21) in the aetiology of myelodysplastic syndrome (MDS) and implications for the management of such patients.

Adult↗
PubMed1994

Small terminal deletions of the long arm of chromosome 2: two new cases.

We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in previous reports. The abnormality may also be more common than has been assumed.

Child↗
PubMed1994

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.

We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic suspicion of a simultaneous deletion of the tip of the short arm and indicated the maternal origin of the abnormality. This deletion made no detectable contribution to the phenotype of the patient which was comparable to that of previous cases of 8p duplication. Similar investigations of inverted duplications involving other chromosomes may reveal unexpected deletions with significant phenotypic consequences.

Abnormalities, Multiple↗
PubMed1994

Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.

We present the clinical and laboratory findings in an institutionalised adult patient originally referred for autism. A high risk of colorectal cancer was predicted when an interstitial deletion of the long arm of chromosome 5, del(5)(q15q22.3), was detected in her lymphocytes and deletion of the MCC and APC genes confirmed by molecular analysis. Adenomatous polyposis coli and carcinoma of the rectum were subsequently diagnosed in the patient. She was profoundly mentally retarded, autistic, and had minor dysmorphic features consistent with those of previous patients with similar deletions. The deletion arose as a result of recombination within the small insertion loop formed at meiosis by the direct insertion (dir ins(5)(q22.3q14.2q15)) found in the patient's mother. This family further confirms the cytogenetic mapping of both MCC and APC genes to 5q22 and comparison with other recent cases suggests that both genes and their closely linked markers lie within the 5q22.1 subband.

Adenocarcinoma↗
PubMed1994

Diaphragmatic herniae and translocations involving 8q22 in two patients.

Two girls with congenital diaphragmatic herniae are reported. Both were discovered to have a balanced reciprocal translocation involving 8q22.3. In one girl the translocation was de novo, in the other it was maternally inherited. Uniparental disomy was excluded in both. 8q22.3 may be the location of a gene affecting development of the diaphragm.

Chromosomes, Human, Pair 8↗
PubMed1993

Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels.

We report the case of a 5-year-old girl with severe developmental disabilities, skeletal anomalies, hypotonia, rectal atresia, malrotation of the intestine, horseshoe kidney, vesicoureteric reflux, and minor facial anomalies. Conventional cytogenetic techniques suggested that she had a mosaic 46,XX/47,XX,+i(8p) constitution, and the identity of the isochromosome was confirmed by in situ hybridization and chromosome painting. Polymorphic DNA markers are consistent with the i(8p) having arisen as the result of a segregation error and centromere misdivision at the second maternal meiotic division. The i(8p) was seen in 17/25 (68%) lymphocytes at the age of one month but had declined to 31/100 (31%) cells by the age of 5 years. At this time the i(8p) was seen in 30/68 (44%) cultured skin fibroblasts. The proposita had an approximately twofold increase in red cell glutathione reductase activity but a normal level of tissue-plasminogen activator. These enzyme results are consistent with the known localisation of the glutathione reductase gene on the short arm of chromosome 8 but suggest that the tissue-plasminogen activator gene may map outside this region.

Abnormalities, Multiple↗
PubMed1993

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE.

Chromosome Fragile Sites↗
PubMed1991

Interstitial deletions without phenotypic effect: prenatal diagnosis of a new family and brief review.

A 39-year-old woman (G4P1SAB2) was referred for amniocentesis for advanced maternal age. An interstitial deletion of the G-dark band 11p12 was found in the fetus. Blood from the mother and her previous son was cultured and the same deletion was found in both. The absence of phenotypic effect in this family further confirms that G-dark euchromatic deletions are compatible with a normal phenotype, and underlines the importance of checking familial karyotypes even when apparently unbalanced structural rearrangements are found at prenatal diagnosis.

Adult↗
PubMed1988

Fatal disseminated cryptococcosis following intraocular involvement.

A 33-year-old man was treated with systemic steroids for a retinal inflammatory lesion before the diagnosis of cryptococcal retinitis and meningitis was suspected. He died from central nervous system disease despite treatment with parenteral antifungals. Histopathological studies demonstrated ocular and disseminated systemic infection with Cryptococcus neoformans. Direct cryptococcal involvement of the eye is rare and is usually associated with disseminated disease. Systemic steroids must be used with caution, and patients who take these drugs require frequent monitoring.

Adult↗
PubMed1987

The intraocular penetration of acyclovir after subconjunctival administration.

Five patients received a subconjunctival injection (25 mg) of acyclovir before undergoing scheduled enucleation. Seven hours after injection, the observed aqueous and vitreous levels of acyclovir were above the minimum inhibitory concentrations for many herpes simplex viruses types 1 and 2. Systemic absorption measured at two and seven hours after injection was negligible.

Acyclovir↗