摘要:

Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03292.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Two sibs, a 13‐year‐old girl and an 11‐year‐old girl, with typical clinical features of the Prader‐Willi syndrome (PWS) are reported. High‐resolution chromosome analysis showed the normal karyotype in the eider sister, and 46,X,del(X)(pter→q26.1:) in the younger sister. But an interstitial deletion of 15q was not detected in either of the cases. PWS is most probably an etiologically heterogeneous syndrome consisting of two subgroups, with partial deletion and non‐deletion of chromosome 1

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03293.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A boy exhibited severe bullous skin disease a few days after birth, followed by increased fragility of the exposed skin in spring and summer. Examination at 2 1/2 years of age led to characteristic biochemical findings: increased excretion of fecal porphyrins (coproporphyrin 121 to 131 and protoporphyrin 467 to 576 nmol/g dry weight), and increased erythrocyte protoporphyrin concentration (3643 to 4840 nmol/I). Lymphocyte protoporphyrinogen oxidase activity was very low in the patient (0.4 nmol/mg protein/h) and half‐normal (2.7 and 2.3 nmol/mg protein/h) in the parents, suggesting that the patient had homozygous variegate porphyria. Severe skin symptoms and a high concentration of red cell protoporphyrin concentration in an infant should prompt suspicion of homozygous acute hepatic porphyri

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03294.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A follow‐up investigation of 24 patients with hereditary spasticity in a geographically isolated northern Swedish population, first examined by Böök (1953), was performed. Fifteen of them were dead. During the period from 1950–1972 five new cases of spastic syndromes were diagnosed in this population. The patterns of clinical symptoms and the genetic associations between the new and 24 previously reported patients with spastic syndromes were analyzed. Three of the five new cases had a specific syndrome. This starts in the first years of life with ataxia, which is followed by dysarthria, spasticity and jerky intention tremor. Initially the patients are mentally normal, but there seems to be slight mental deterioration through the years. The disorder is a progressive spinocerebellar degeneration with autosomal recessive inheri

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03295.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A brother and sister with clinical and radiological features of Morquio disease, but with atypical mental regression, are described. Leucocyte and fibroblast β‐galactosidase activity was deficient in the siblings, whileN‐acetylgalactosamine 6‐sulphate sulphatase and neuraminidase were normal. Study of the residual fibroblast β‐galactosidase activity towards 4‐methylumbelli‐feryl and p‐nitrophenyl β‐D‐galactosides indicated that the mutation resembles that in typical Morquio B disease (increased Km and similar pH maximum) rather than that in GM1‐gangliosidosis. The patients have therefore been classified as having Morquio B disease with atypical mental regression rather than GM1‐gangliosidosis variants with particularly severe bony abnormalities. The mutation was, however, distinct from that in Morquio B disease since residual activity towards the alternative artificial substrate 4‐methylumbelliferyl‐β‐D‐fucoside was increased. The patients represent further examples of the heterogeneity that can result from muta

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03296.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fundus of the eye and subcortical cerebral atrophy. These physical defects do not correspond to any previously described syndrome, which suggests that it is a new syndrome. According to the model of heredity this syndrome could be due to a mutant gene situated in the X‐chromosom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03297.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Most familial dysbetalipoproteinemic patients are E2/E2 homozygotes for the apolipoprotein E (apoE) polymorphism, whereas patients with the E4/E2 or E3/E2 phenotype are very rare. Three out of 41 dysbetalipoproteinemic patients from our lipid clinic appeared to be E3/E2 heterozygotes. ApoE protein phenotyping and DNA oligonucleotide hybridization techniques showed that all three patients exhibit an uncommon E2 variant that contains only one cysteine residue. These results suggest that, in contrast to the by far most frequently occurring E2(Arg158→ Cys) allele, heterozygosity for this uncommon E2 allele may cause familial dysbet‐alipoproteinemia. Preliminary family studies suggest that this uncommon E2 allele cosegregates with familial dysbetalipoproteine

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03298.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Analysis of partial duplication of chromosome 21 suggests that band 21q22 contains determinants for the Down syndrome. We report two cases of free proximal trisomy 21 without manifestations of the Down syndrome. Phenotypic anomalies included marked microcephaly, short stature, hypoplastic nails, and mental retardation/developmental delay. Our cases are consistent with the assignment of band 21q22 as the causal duplicated segment in the Down syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03299.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Genomic loci displaying DNA sequence polymorphisms represent useful landmarks on the genetic linkage map. We describe an integrated experimental approach to facilitate the detection of DNA restriction fragment length polymorphisms (RFLP) with useful allelic frequencies at loci covered by cloned DNA sequences. The essential feature of the screening method presented is the pooling of DNA from unrelated individuals for Southern blot hybridization analyses using non‐repetitive DNA sequences identified in and preparatively isolated from genomic X phage clones. This procedure results in the detection of RFLP with maximal values of hetero‐zygosity while counterselecting for RFLP with unfavourable allelic frequencies. The described experimental protocol should therefore facilitate the identification and characterization of polymorphic loci with frequent heterozygos

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03300.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A Jewish family is reported in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root and small nasal alae. In addition, both were born with a short frenulum of the tongue. We believe these findings represent a new autosomal dominant deafness syndrome with distinct craniofacial features.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03301.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY