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Biomedical subjects

D I Wilson

Publications and source records attributed to D I Wilson.

45 records · Page 3Linked to original sources
PubMed1993

Noonan's and DiGeorge syndromes with monosomy 22q11.

A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeorge syndrome; 22q11 is a candidate region for a gene defective in Noonan's syndrome.

Blotting, Southern↗
PubMed1993

DiGeorge syndrome: part of CATCH 22.

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.

Abnormalities, Multiple↗
PubMed1992

Deletions within chromosome 22q11 in familial congenital heart disease.

Because a locus on chromosome 22q11 is deleted in most individuals with DiGeorge and Shprintzen syndromes--conditions in which heart abnormalities are an important feature--we have looked for deletions in nine families with recurrent outflow-tract heart defects. In five families, chromosome 22 deletions were detected in all the living affected individuals studied and also in the clinically normal father of three affected children. The deletion was transmitted from parents to offspring and was associated with an increase in the severity of cardiac defects. No deletions were found in four families in which the parents were normal and affected siblings had anatomically identical defects. We propose that deletions within band q11 of chromosome 22 are an important cause of familial heart defects.

Autoradiography↗
PubMed1992

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.

The large clinical overlap between DiGeorge syndrome and velo-cardio-facial syndrome suggests an aetiological connection. DiGeorge syndrome is associated with microdeletions of chromosome 22q11 and is therefore likely to be caused by reduced dosage of genes within this region. We present preliminary data that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11.

Abnormalities, Multiple↗
PubMed1992

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.

Child↗
PubMed1991

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

DiGeorge syndrome was diagnosed in an infant who had an interrupted aortic arch, hypoparathyroidism, and low T lymphocyte numbers. Two siblings had heart defects that are not commonly described in DiGeorge syndrome (a membranous ventricular septal defect and coarctation of the aorta respectively). These siblings did not have evidence of thymic dysfunction or hypoparathyroidism. Chromosome analysis showed that the mother, whose cardiovascular examination was normal, and her three offspring with heart defects had a 22q11 interstitial deletion, which was confirmed by molecular analysis. This family suggests that 22q11 deletions can cause apparently isolated heart defects and that the range of these defects may be wider than previously recognised. Once the genes that are deleted in this family are characterised they will be useful candidate genes in the investigation of isolated cardiac malformations.

Aortic Coarctation↗
PubMed1990

Fetal and infantile hypertension caused by unilateral renal arterial disease.

Three children who presented with heart failure in infancy caused by severe hypertension as a result of unilateral renal arterial disease are described. One presented at 3 days of age with persistent fetal circulation and heart failure. He had abnormal great vessels that indicated that the hypertension was of long standing and therefore fetal; this has not been described previously. The other two children failed to thrive because of unrecognised hypertension and subsequently presented with heart failure. All three underwent unilateral nephrectomy which cured their hypertension, and all were thriving at the time of writing. The benefits of nephrectomy outweighed the operative risks and loss of renal function. Blood pressure should be measured in children who are failing to thrive as part of routine clinical practice.

Cardiac Output, Low↗
PubMed1975

Growth hormone and cortisol levels in the annual cycle of white-tailed deer (Odocoileus virginianus).

The annual cycles of growth hormone and cortisol levels in white-tailed deer were followed. No significant difference was found in the average cortisol levels in a large group of animals during the year. In contrast to cortisol, growth hormone (GH) investigated by heterologous bovine GH radioimmunoassay, seems to have a distinct annual rhythm. High levels of GH in plasma were found between casting and the first week of antler growth with the peak of 23.1 ng/ml (estimated in bovine GH equivalents) in the middle of April. From the middle of June until the middle of November a plateau averaging 3 ng/ml was found. The relationships between very rapid growth of a bone tissue and the influence of GH and sex hormones are discussed.

Acclimatization↗