摘要:

In this study, we have compared the hemoglobin A2levels (Hb A2) of α‐thalassemia carriers (‐α/‐α and ‐α/αα genotypes) with those of double heterozygotes for δ+and β° thalassemia genes, who were identified by family studies and polymorphic restriction site analysis within the β‐globin gene cluster. We found that double heterozygotes for the δ+and β° thalassemia have significantly (p<0.001) higher Hb A2levels as compared with carriers of α‐thalassemia. This finding has practical implications in the genetic counseling of subjects with a thalassemia‐like phenotype associated with norma

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01209.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Insulin release and sensitivity were estimated from glucose and insulin curves obtained at a glucose infusion test performed on altogether 601 subjects belonging to 155 nuclear families. Ascertainment was through one of the parents, and 96 of the probands had diabetes with clinical onset after the age of 30 years, while 59 were healthy subjects. Three variables obtained by a computer model were analysed, i.e. the glucose regulation of insulin release by a direct stimulatory event (KI) and time‐dependent modulatory events (KP) as well as insulin sensitivity (KG). Complex segregation analysis revealed that the variables are genetically regulated, but there was no evidence for a major locus. The children of the diabetics did not differ from those of the non‐diabetics as far as insulin release is concer

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01210.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Amniocentesis and amniotic fluid trehalase enzyme assay were offered to 14 pregnant women at a 1 in 4 risk for a child with cystic fibrosis. Twelve of these pregnancies were screened at the 18th week of gestation; ten proceeded to term, seven following the finding of a normal trehalase activity and three despite the low enzyme level in amniotic fluid. In all ten cases prenatal diagnosis proved to be correct. In two cases with low enzyme activity parents opted for termination at the 19th week, and with PAS‐Alcian Blue staining some slight histochemical lesions characteristic of cystic fibrosis were seen in the exocrine glands, including the pancreas and intestinal mucosa, of both fetuses. The total protein content in the meconium of these fetuses was significantly higher than in the controls.Results suggest that trehalase assay in the amniotic fluid is a potential prenatal test for cystic fibrosis and it appears that in fetuses with cystic fibrosis some histochemical and biochemical abnormalities can be observed as early as the 19th week of gestation. The role of ultrasound examination as an additional procedure for the prenatal diagnosis of cystic fibrosis is also discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01211.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Three trisomic offspring conceived by artificial insemination by donor (AID) were observed in a population in which a total of about 400 babies were so conceived. To test whether this excess represented a random fluctuation or a real effect of the AID procedure we surveyed, by questionnaire, a group of women who had born children conceived by AID. A significantly higher number of trisomic offspring were found than expected in a population with the observed age distribution. Further data are needed to test the validity of this observation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01212.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Metacarpophalangeal pattern profile (MCPP) was determined on 38 Prader‐Willi syndrome individuals and compared with a previous report on 16 patients. Chromosome analysis showed an interstitial deletion of the long arm of chromosome 15 in 20 subjects and normal chromosome results in the remaining 18 individuals. The mean hand profile of 38 individuals was essentially flat while the profiles for the two groups based on chromosome findings were separate in the metacarpal area. Correlation studies confirmed the homogeneity of the deletion group relative to Prader‐Willi syndrome individuals with normal chromosomes. Discriminant analysis of Prader‐Willi syndrome versus control individuals produced a function of three MCPP variables plus age which may be applied as another diagnostic

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01213.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Genetic linkage relationships between 27 informative marker loci and the locus for epidermolysis bullosa dystrophica, Cockayne‐Touraine type (EBD‐CT), were examined in a single large kindred. Linkage could not be demonstrated to any of the marker loci, further adding to the exclusion map forEBD‐CT.The dominant forms of EBD so far delineated by clinical criteria and electron microscopy remain genetically undefined in terms of loci and allelism. Further investigation will be undertaken using restriction fragment length polymorphisms mapped to regions outside the existing exclusio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01214.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A large family with an inherited reciprocal translocation (16;21) is described. An unbalanced karyotype due to adjacent‐1 segregation was documented in 6 cases, whereas 25 children dying within the first year of life and 4 individuals dying at later ages probably had the same abnormality. Therefore minimal and maximal risk estimates were calculated to be 6.0% and 26.5% for female, respectively, 4.8% and 33.3% for male translocation heterozygotes. Among the karyotyped phenotypically normal offspring of male as well as female carriers the ratio of normal children to balanced carriers was not different from 1:

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01215.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A Sicilian family is reported in which 36 individuals, in 5 successive generations, were affected with congenital cataracts, microcornea and myopia with an autosomal pattern of inheritance.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01216.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

We report a child with clinical features remarkably similar to those of our patient reported as tetrasomy 21 in 1982. Improved banding in this, and the previous case, together with gene dosage studies, and subsequent reports in the literature lead us to conclude that these patients are in fact tetrasomic for 12p. The clinical features of these children are most distinctive and the importance of their recognition lies in the fact that the abnormal cell line is virtually confined to fibroblast studies.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01217.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Two sisters and an unrelated girl presented a distinct intrauterine growth retardation‐malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygocity from an autosomal recessive gen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb01218.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY