摘要:

In vitrofertilization and embryo transfer or gamete (or zygote) intra‐Fallopian transfer after ovum donation were performed in 16 patients with primary or secondary amenorrhea, associated with chromosome abnormalities. The patients showed the wide range of (mostly X) chromosome abnormalities characteristic for women with primary or premature ovarian failure. Four of these patients became pregnant and three of them have delivered healthy infants with a normal karyotype. This pregnancy rate is far superior to the accepted fertility figure in these patients. When these results were compared with the fertility treatment results of three other groups of women with absent ovarian function (1. ovarian dysgenesis; 2. surgical castration; 3. premature menopause) but with a normal 46.XX karyotype, no difference in treatment efficiency could be detected. These results offer a promising approach for the treatment of infertility in agonadal patients with chromosome aberration

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03169.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Six German families segregating for Myotonia congenita (MC) and eight families from Germany and Great Britain with Paramyotonia congenita (PC) were tested for linkage relationships using 35 serological and biochemical markers. No linkage of MC to any of the markers was evident, but a positive sum of lod scores for PC vs. the HP locus (ẑ= 1.16, θ=0.16) was found. The results encourage further investigations involving chromosome 16 marker

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03170.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

We conducted genetic linkage analyses of breast cancer in 20 pedigrees, each having at least one case of bilateral breast cancer diagnosed before 50 years of age. We tested for linkage using inheritance models from previous segregation analyses, incorporating differences in risk based on menopausal status into the analyses. We tested for heterogeneity by predividing the data set based on the interval between diagnoses of the proband's two primaries (less than 1 year (synchronous) versus at least 2 years (asynchronous)), and on the histological types of breast cancer in the pedigrees. Very tight linkage could be excluded between breast cancer and ABO, GC, GPT, MNS, and PGM1 for some of the different linkage analyses. A maximum lod score of +1.01 (at θ=0.001) between ACPI and a breast cancer susceptibility locus was seen in the asynchronous all‐cases subsamp

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03171.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

CuZnSOD is produced in overdose in cells with trisomy 21.This has been considered to be a cause of increased oxidative stress. In the present work we have studied the catalase and glutathione peroxidase activity in fibroblasts from 6, and blood cells from 30, subjects affected by Down syndrome. In the fibroblasts, catalase and glutathione peroxidase activities did not differ significantly from control cells. In platelets, lymphocytes, polymorphs and erythrocytes, no significant increase of catalase activity was found while glutathione peroxidase activity appeared significantly increased in platelets, polymorphs and erythrocytes but not in lymphocytes. These data seem to indicate that the increase of CuZnSOD in trisomy 21 cells does not affect the production of catalase. An increase, instead, of glutathione peroxidase has been detected in all blood cells, except in lymphocytes; this is a sign of a greater need for protection against the risk of lipoperoxidation. The fact that the enhancement of glutathione peroxidase activity could be assessed only in some types of cells examined suggests that the observed increase in those cells is probably a result of an additive effect of the overproduction of CuZnSOD due to gene dosage and the ordinarily higher content of oxygen radicals and peroxides.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03172.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

We have estimated the haplotype distribution of mutant and normal phenylalanine hydroxylase (PAH) alleles for 17 Turkish phenylketonuria (PKU) families: 20 normal and 27 mutated PAH alleles could be identified. Of the latter, the most prevalent were associated with haplotype 6 (29.6%), 1 (18.5%) and 36 (11.1%), while the normal alleles were preferentially associated with haplotype 1 (20%). Of the 19 different haplotypes observed, 5 have not been described previously. The haplotype distribution differed significantly from that of the Northern European population. Two of the eight polymorphic sites were in association with PKU. No deletions of exon sequences were found in the families analysed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03173.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Five children from three unrelated families were bom with symmetrical contractures of the knees, ankles and feet. An initial diagnosis of arthrogryposis multiplex was made, but frequent fracturing occurred after walking commenced and it was then recognised that the children had osteogenesis imperfecta. The pathogenesis of the congenital contractures is unknown, but the symmetry and lack of evidence of prior fracturing is suggestive of articular immobility during early intra‐uterine development. The consistency of the anatomical distribution of the contractures, in the setting of a uniform 01 phenotype, is suggestive of syndromic identity. A similar case was documented by Alfred Bruck in 1897 and we propose that the eponymous designation “Bruck syndrome” should be applied to the dis

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03174.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Clinical and pathological features of two siblings of opposite sex with the Pena‐Shokeir phenotype are reported. A detailed account of the prenatal and dysmorphological findings is given in one case. A broad range of deformations regarded as secondary to fetal hypokinesia was present, including a number of yet unreported findings. One case showed additional endocrine hyperplasia and left lung trilobation. Both siblings displayed extensive, highly similar CNS‐abnormalities. The type and convergence of these malformations differ from previously reported cases and characterize a new familial subtype of the Pena‐Shokeir phen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03175.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Steatocystoma Multiplex (S.M.) is an inherited condition characterized by the appearance of cysts during the first or second decade of life. Familial cases have occasionally been reported. We studied 13 patients affected by S.M. from two unrelated families, focusing our attention on HLA, Gm and Km genotypes and on chromosomal analyses. Although we failed to correlate the syndrome with a particular HLA, Gm or Km haplotype, we report some peculiarities and differences between these two families and the healthy Italian population.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03176.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03177.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03178.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY