摘要:

A Yugoslav family with one female and three male children with Robert's syndrome (RS) is described. To our knowledge, there is no other family with four siblings presenting this genopathy. Most of the symptoms of the fourth sibling were identical to those found in the SC syndrome, suggesting the same genetic origin. The same chromosomal changes which were discovered in the third sibling were also found in the fourth sibling. These chromosomal abnormalities could prove useful for antenatal diagnosis.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02071.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Twenty‐three couples who had received genetic counseling after the birth of a Down Syndrome child (DSC) were closely match‐paired by race, religion, maternal age, paternal occupation, parental education and sex sibship order of the DSC with 23 non‐counseled couples who also had a DSC. When evaluated at least 11/2 years after the birth of the DSC or the genetic counseling, there were no significant differences between counseled and non‐counseled couples in knowledge of general genetics or recurrent risks for Down Syndrome, initiation of subsequent pregnancies, or utilization of prenatal diagnosis. Knowledge of general genetics and recurrent risks for Down Syndrome among our post‐counselees was poorer than that of two publishedimmediatefollow‐up reports. Although 18 of 46 couples initiated at least one more pregnancy after the birth of their DSC, only three couples (2 counseled; 1 non‐counseled) utilized prenatal diagnosis by

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02072.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Alpha‐1‐antitrypsin was examined in the serum from 121 Down's syndrome families. Variant phenotypes (non‐M) were increased in frequency in parents (15 %) and in their affected children (19 %) compared to frequencies of 8–10 % in two control groups (p<0.001). Variant parental Pi phenotypes were found in 19 mothers and 10 fathers of Down's patients. Parental origin of the extra chromosome 21 was known in 34 families and was maternal in 26 instances. In seven families where parental origin of the extra chromosome was known, a variant Pi phenotype was inherited from the parent contributing the extra chromosome in four families and from the parent not contributing the extra chromosome in three families, indicating that there is no simple correlation between the Pi variant and nondisjunction. The increase in Pi variants in Down's syndrome families was independent of mater

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02073.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

This paper describes the prevalence of Duchenne, Becker Type II, limb‐girdle, facioscapulo‐humeral dystrophies and dystrophia myotonia in Alberta, Canada, as of January 1, 1979. Rates established for Duchenne, limb‐girdle, and facio‐scapulo‐humeral dystrophies in 1962 had all been lower. The incidence of each M.D. type is described during 1950–74 by either 5‐ or 10‐year periods and shows consistent declines. Increased prevalence, despite declining incidence, for each of the muscular dystrophies may indicate improved medical care and greater longevity for affe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02074.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Histocompatibility (HLA) antigens and genotypes B, D and DR were studied in a large sample of Caucasian insulin dependent diabetic (IDD) probands. The associations between IDD and B8, B15, Dw3, Dw4, DR3, and DR4 were measured by relative risks (RR) and delta values (δ). Both the homozygotes (B8/8: RR 10, B 15/15: RR 7, DR3/3: RR32, DR4/4: RR34) and the heterozygotes (B8/15: RR 11, DR3/4: RR 46, Dw3/4: RR 22) for the high‐risk antigens showed highly significant elevation of the relative risks, yet there were no statistically significant differences between the homo‐ and the heterozygotes. The δ measurements supported the RR results. RR and δ were found significantly decreased for B7, Dw2, and DR2. There were no relationships observed between age at diagnosis or family history and HLA. Although we were unable to demonstrate a statistically significant difference between the RR for the high‐risk antigens heterozygote vs. the high‐risk antigen homozygotes, our study like many others shows that the RR is higher for the heterozygotes. Thus our data are compatible with genetic heterogene

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02075.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A case of terminal deletion 10q25→qter is reported. Comparison of the findings with those noted in the three previously published cases revealed marked clinical dissimilarities and some unusual features not hitherto describe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02076.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Karyotype/phenotype correlations in six non‐mosaic patients with dysgenetic ovaries and partial deletions of the X‐chromosome (three patients with short arm, and three with long arm deletions) are presented and the pertinent literature is analysed. It would appear that functioning ovarian tissue is present more often in patients with a short arm deletion than in those with a deleted long arm. This may represent a difference in the strength of two sets of controlling factors, but it can also be related to break point position. This in turn may be misinterpreted due to the difficulty in distinguishing between terminal and interstitial deletions in the long arm. Stature may be a heterochromatic effect, but if specific genetic factors influencing stature exist, then they would appear to be situated mostly on the short arm of the X‐chromosome, although some ‘statural determinants’ occur also on the long arm and could be located rather close to the centromere. Deletions of the short arm of the X‐chromosome were almost always associated with some features of the Turner phenotype, and could possibly be related to a gene do

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02077.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02078.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Basal levels of benzo(a)pyrene metabolism were measured in hair follicles of seven monozygotic twins, eight dizygotic twins and ten pairs of unrelated individuals. Organic soluble metabolites were separated by thin‐layer chromatography, visualised by autoradiography and quantified by scanning of the films. Activity was expressed as pmol 7,8‐ and 9,10‐dihydrodiol metabolites of benzo(a)pyrene per μg DNA per hour. Intra‐twin differences in benzo(a)pyrene metabolism for monozygotic twins were smaller than for dizygotic twins and intra‐pair differences for dizygotic twins were smaller than for pairs of unrelated individuals. The results clearly suggest that individual differences in benzo(a)pyrene metabolism in hair follicles are partly genetically determined. Thus, hair follicles may be used for investigations on the suggested relations between genetic predisposition to carcinogen‐induced cancer and individual differences in carcinogen metabolism. The relevance of these findings to research into the induction of neoplasms by carcinogens in epithelial tissues

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02079.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Apparent deficiency of α‐galactosidase A was observed in a 51‐year‐old, clinically healthy male, with no clinical symptoms of Fabry disease, and without excess urinary excretion of ceramide trihexoside. The deficiency, which was similar to that found in Fabry disease patients, could be demonstrated using both synthetic and natural substrates. This pseudo‐deficiency was transmitted in his family by classical X‐linked inheritance. His wife showed enzyme activity in the normal range, two daughters were heterozygotes for this mutation as demonstrated by hair root assay, and three sons showed normal α‐galactosidase activity. Kinetic studies in cultured skin fibroblasts indicated a five‐fold increase in the apparent Km and a greater heat stability of the residual α‐galactosidase activity when compared to controls. These data indicate that the residual enzyme activity in this mutation behaves similarly to that observed in Fabry disease patients but does not cause any clin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb02080.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY