Biomedical subjects
Publications and source records attributed to W G Wilson.
We describe a brother and sister with microcephaly and mental retardation who were shown by cranial CT scan to have almost identical unilateral arachnoid cysts. The occurrence in sibs suggests the possibility of a genetic basis for at least some cases of arachnoid cysts.
Explore the source record for details and available documents.
A 5-yr-old girl with unilateral retinoblastoma was found to have del(13)(q14.1q14.3). Her 16-month-old sister and 35-year-old mother, with retinal colobomata but without retinoblastoma, have the same deletion. Esterase D studies indicate reduced gene dose at this locus in the 3 females, consistent with a deletion of band 13q14. These patients are of apparently normal intelligence but have a mildly "coarse" facial appearance, a broad nasal bridge, upturned nares, and a long upper lip with thin upper lip vermillion similar to the phenotype suggested by Motegi et al [1983a] for patients with this deletion. Review of the literature documents 2 other patients with deletions of band 13q14 but without retinoblastoma, indicating that retinoblastoma is not a necessary consequence of this deletion. Of the 12 reported patients with deletions limited to band 13q14, seven had normal intelligence and five were macrocephalic. Insufficient clinical information is provided to draw conclusions about phenotype. The family which we describe and those reviewed by Motegi et al suggest that there may be a characteristic appearance in patients with this deletion.
Explore the source record for details and available documents.
Partial defects in activity of the pyruvate dehydrogenase complex have been described by some investigators in cell lines from Friedreich ataxia and Charcot-Marie-Tooth disease patients. Methylene blue was used to stimulate the rate of pyruvate oxidation in two different assay systems of pyruvate dehydrogenase activity in cultured human fibroblasts to determine if such partial defects, if present, could be detected in a stimulated assay system. Cell lines from normal controls, five patients with Friedreich ataxia, six related persons with Charcot-Marie-Tooth disease patients were studied. Although methylene blue (at a concentration of 25 mumol/l) significantly increased pyruvate oxidation in both assay systems and in all cell lines studied, no significant differences in pyruvate oxidation could be demonstrated between the control cells and either the Friedreich ataxia or Charcot-Marie-Tooth cell lines.
Explore the source record for details and available documents.
We describe a fetus with hydrocephalus and the cranial and cervical findings of iniencephaly (enlarged foramen magnum, fusion of the upper cervical vertebrae, and a retroflexed, webbed neck) who had an unusual palatal abnormality ("palatal anteversion"). The posterio-lateral border of the secondary palate arose at the oral commissures, giving the palate an appearance of being folded so that the uvula was directed anteriorly. There were no clefts. Histologic sections of the junction of the secondary palate with the inner aspect of the oral commissures revealed continuity of the epithelial basement membranes and no unusual disarray of collagen fibers. This indicates that the unusual palatal orientation occurred during palatal formation and was not due to adhesion formation later in development. Failure of rotation of the palatal shelves prior to fusion and merging could account for the observed findings.
A five-year-old-girl with a history of recurrent hypoglycemia presented with acidosis, intractable vomiting, and abdominal tenderness; the diagnosis of acute pancreatitis was made by abdominal ultrasonography and supportive biochemical studies. Urinary organic acid analysis revealed metabolites suggestive of HMG-CoA lyase deficiency, and subsequent enzyme assays of lymphocytes and fibroblasts confirmed this diagnosis. Acute pancreatitis, an uncommon condition in childhood, is seen with increased frequency in patients with Reye syndrome, a metabolic disorder with which HMG-CoA lyase deficiency may be confused. The pathogenesis of pancreatitis in Reye syndrome or in HMG-CoA lyase deficiency has not been determined.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We report on an adult woman with profound mental retardation and multiple anomalies who consists of 3 cell lines: one with trisomy 18, one with trisomy 13, and a normal cell line. Her phenotype includes manifestations of both trisomy syndromes. The origin of these cell lines could have been a doubly aneuploid (48,XX + 13, + 18) or singly aneuploid (47,XX + 18 or 47,XX + 13) zygote with subsequent mitotic nondisjunctions, or a normal zygote with multiple mitotic nondisjunctions. There have been four previous reports of mosaicism involving both trisomy D and trisomy E; all died in the first six months of life. Two of these cases had a doubly aneuploid (48,XX, + D + E) cell line. Our patient illustrates the need for study of several tissues in patients with complex aneuploidy syndromes or atypical manifestations of a given syndrome (such as prolonged survival), as well as the need for caution in counseling families about prognosis for survival in autosomal trisomies which usually are lethal.
Two brothers with developmental delay and unusual cranial configurations were found to have agenesis of the corpus callosum (ACC) by CT scan. Six published families in which ACC occurred in the absence of extracranial malformations are reviewed. No single mode of inheritance can account for all of these familial cases. This family illustrates the value of CT scanning in evaluating children with developmental delay.
A patient with the Brachmann-de Lange syndrome was found to have an apparently balanced de novo translocation 14q; 21q. The relationship between this uncommon translocation and the patient's phenotype is unclear. Although most patients with the Brachmann-de Lange syndrome have normal chromosomes, the possibility of aetiological heterogeneity, including some rare chromosomal abnormalities, cannot be dismissed.
A patient with multiple exostoses, mental retardation, and unusual facies has an interstitial deletion of the long arm of chromosome 8, or 46,XX, del (8) (pter leads to q22::q24.1 leads to qter). She has some features of the Langer-Giedion syndrome, but her facies are not characteristic and she does not have cone-shaped phalangeal epiphyses. Of the eight previous reports of partial deletion of the long arm of chromosome 8, four patients had exostoses and unusual facies, three of whom had characteristics of the Langer-Gieldion syndrome. The deleted segments in the patients with exostoses are not identical, although there are areas of deletion that are seen in more than one patient. Among the explanations of the relationship of the 8q deletions to exostoses is the presence of several loci on 8q that are involved in bone formation, the deletion of any of which may give rise to a similar skeletal defect.
Explore the source record for details and available documents.
A 5-year-old male with mild mental retardation showed a chromosomal rearrangement involving duplication of part of 2q (2q33.3 leads to 2wter) in 70% of metaphases from peripheral blood; the remaining 30% of cells had a rearrangement of chromosome 2 in the form of a ring, viz., r(2)(2p25.2 leads to 2q33.2). Both configurations appeared to be missing a tiny portion of 2p (p25.3 leads to pter). All metaphases examined from cultured skin fibroblasts from the child had the abnormal rod configuration of chromosome 2; none had the ring. The pattern of the 2q duplication/2p deletion in the rod is that expected if there were an inversion in a No. 2 in one of the parents. Q-, G-, and R-banding studies, however, revealed both parents to be chromosomally normal. Furthermore, the finding of an inversion would not explain the origin of the ring. The most probable explanation is that neither parent is mosaic for an inversion, but that the rod and ring configurations arose simultaneously from a de novo, prezygotic or early zygotic exchange in a No. 2, either between complementary DNA strands in G1 or by intrachromosomal exchange in S or G2. Differential selection against cells with the ring chromosome in blood and skin probably occurred during subsequent embryological development. Cytoplasmic malate dehydrogenase (MDH1) was excluded from the terminal band of 2p (i.e., 2p25.3) by deletion mapping.
Explore the source record for details and available documents.
Explore the source record for details and available documents.