摘要:

The prevalence of child neuromuscular disease in Southern Norway by January 1st, 1983, was studied by collecting data from all available sources. All children born 1.1. 1965 or later were included in the study. The total group consisted of 110 patients from 17 different diagnostic categories. Total prevalence on this group was found to be 24.9 times 105. Duchenne muscular dystrophy (DMD), with a prevalence of 10.89 times 105constituted 29.2% of the total material. In the spinal muscle atrophy group (SMA), we found a significant increase in the number of boys affected, although an autosomal recessive mode of inheritance was found likely in all probands. Prevalence figures of child neuromuscular disease are hard to compare, as most studies deal with an adult population. The prevalences of common and well‐known large categories of neuromuscular diseases in childhood are in agreement with previous studies. For less well known and mild diseases, our figures are low. This may be due in part to a later onset and in part to a health system not sensitive to parents' complaint

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02854.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

We report two cases of an idic (X) chromosome found in relatives with Turner's syndrome. A 21‐year‐old female revealed a non‐mosaic form of X isochromosome of the long arms with two C‐band regions, i.e. dic(X)(qter→cen→pll::pll→cen→qter). Her 46‐year‐old aunt with Turner's syndrome had an X chromosome with long arm breakpoints at site q21 and chromosomal mosaicism, i.e. 45,X/46,X, dic(X)(pter→q21::q21→pter)(78/22). The relative rarity of reports about familial Turner's syndrome with structural abnormality may suggest a coincidence. However, it is difficult to exclude familial predisposition to X isochromosome f

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02855.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5‐fold increase in Pep A activity over that of the control fibroblasts. Agar gel electrophoretic analysis revealed no detectable differences in the electrophoretic mobility and isoenzyme patterns of Pep A between the trisomy 18 fibroblasts and normal ones. The present results show the trisomy 18 fibroblasts to be suitable for study of the gene dosage effect of Pep

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02856.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Polymorphonuclear leucocytes from patients with full Turner's syndrome (45,X) revealed a significantly weaker chemotactic response towards zymosan‐activated serum than normal female and male controls. Random mobility and chemokinetic responses of polymorphonuclear leucocytes were normal, and so were all locomotive responses of mononuclear phagocytes in patients with Turner's syndrome. A subclinical polymorphonuclear leucocyte chemotactic defect is suggested by these results, and a possible regulatory effect by a gene(s) in chromosome X (and Y) that must be present in a full double dose to preserve this function can be proposed. Control of polymorphonuclear leucocyte chemotaxis may represent yet another exception to the general rule of X‐inactivat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02857.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

The paper presents a case report of a clinicalty healthy woman with a family history of Huntington disease, whose child developed symptoms of the disease at the age of 8 years. Psychotherapeutic treatment for more than 18 months has provided insight into the problems associated with being an unsymptomatic carrier of the gene and helps to elucidate some aspects of predictive testing.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02858.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

The restriction fragment length polymorphism (RFLP)‐haplotypes have been analysed in 16 families from the northern part of the GDR at risk for classical and mild phenylketonuria (PKU). Ten different RFLP haplotypes associated with the normal and mutant phenylalanine hydroxylase (PAH) alleles were identified. Of the 32 mutant alleles analysed, 29 (90.6%) were associated with haplotypes 1, 2, 3 and 4; 53.1% of the mutant alleles were linked with haplotype 2. The distribution of RFLP haplotypes in 16 patients of clinical different PKU phenotypes (classical and mild) is reporte

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02859.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Pallister syndrome is consequent to mosaicism for i(12p). The isochromosome is found mainly in skin fibroblast cultures, but rarely also in cultured peripheral blood lymphocytes. Maternal age for reported cases of Pallister syndrome was significantly older (p<0.005) compared to maternal age for the general population, and similar to maternal age in cases of Down syndrome (p<0.5). Paternal age in cases of Pallister syndrome was that expected in the general population from the age of their spouses (p<0.9). These data complement the maternal age effect seen in other aneuploidy conditions and suggest, as is found in mosaic cases of Down syndrome, that the chromosomally normal cell line in Pallister syndrome arises post‐conception from a zygote already aneuploid consequent to meiotic nondisjunctio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02860.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Isolated neuraminidase deficiency is a member of the relatively rare group of storage disorders known as glycoproteinoses. We report the long‐term natural history of the disease in one of the first patients described in the literature. An unusual feature of the disease is the abrupt onset and fulminant nature of the nephrotic syndrome, complications of which caused the demise of our patient. Pathological examination of the kidneys from this child revealed renal epithelial cell damage, most marked in the membranes of the glomeruli and proximal tubules, findings which are consistent with the high sialic acid content of the membrane in these areas of the nephron. Chemical analysis indicated that the bulk of the stored material in the kidney was in the form of polar sialyloligosaccharides of high molecular weight. On the basis of our experience, as well as the previous reports of neuraminidase‐deficient patients with nephropathy, we propose a nephropathic phenotypic variant of type 2 infantile sialido

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02861.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

We describe a new family with the Townes‐Brocks syndrome, a dominantly inherited syndrome of anal, urorenal, ear and limb malformations. The proband shows the full spectrum of anomalies, including imperforate anus, prominent perineal raphe, rectoperineal fistula, triphalangeal thumb, preaxial hexadactyly, syndactyly, clinodactyly, preauricular protuberances, hypoplastic satyr ears, sensorineural hearing loss and urorenal anomalies. In contrast, the father shows only limb anomalies, sensorineural hearing loss and renal anomalies. Anorectal malformations, which are present in almost every patient with the Townes‐Brocks syndrome, were absent in the father. This case report illustrates the intrafamilial variability of the Townes‐Brocks syndrome. Consequently, careful examination of relatives of patients with this syndrome is necessary for the differential diagnosis with the sporadically inherited VA(C)TER(L) associ

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02862.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A 5‐year‐old boy with slow psychomotor development, slight widening of the posterior part of the brain ventricles, and anomalies of vertebrae and ribs is described. Cytogenetic investigation revealed the mosaic karyotype 47,XY, +i(8p)/46,XY, i.e., a triplication of 8p. This abnormality has not been reported bef

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb02863.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY