摘要:

We report on a family in which individuals have clinical features of both Emery‐Dreifuss syndrome (EMD) and X‐linked muscular dystrophy with contractures (XLMDC). Molecular studies on this kindred showed linkage between the disorder and probe DXS 52 (St 14) located at Xq28. The gene for conventional EMD has previously been mapped to this region and our molecular findings therefore suggest that EMD and XLMDC represent the phenotypic spectrum of the same mutated gene rather than heterogeneity, as sometimes postula

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02898.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

We have analyzed one patient with a syndrome of glycerol kinase deficiency (GKD), adrenal hypoplasia (AH), mental retardation (MR) and hypogonadotropic hypogonadism (HH). Although a cytogenetic analysis of the patient failed to reveal any detectable chromosomal abnormality, Southern blot analysis, using DNA probes from the Xp21‐Xp22 region, revealed a molecular deletion localized between the DXS41 and the DXS268 loci. Our results together with those of others (van Ommen et al. 1986, 1987, Francke et al. 1987, Yates et al. 1987, Chelly et al. 1988) suggest that the GK gene is located between the DXS68 and DXS268 loci. In addition, we propose a locus for HH in Xp, distal to the genes for GK and A

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02899.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried out with a cloned DNA sequence from the alphaglobin locus known to be closely linked to the disease gene in adult onset ADPKD. In the families studied here, close linkage (θmax= 0.09 at Zmax= 2.32) was also observed between the marker and disease loci. These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02900.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

In 7 patients (5 girls, 2 boys) with the EMG or Wiedemann‐Beckwith syndrome, statural growth, bone age (BA), weight and pubertal development were studied longitudinally. Height was above the 90th percentile (%) for chronological age (CA) after age 2 years, reaching an average of 2.5 SD above the mean at or after puberty. Adult or attained height also exceeded significantly (P<0.015) parental (genetic) target height by 13.2 cm on the average. In one girl, adult height prognosis (190 cm) could be reduced to an adult height of 183 cm by high‐dose estrogen treatment. In most children, growth velocity remained above the 90th % up to 4–6 years of age and normalized thereafter. In all patients studied, bone age was markedly advanced and particularly so during the first 4 years after birth. Weight was above the 90th–97th % during infancy and early childhood and remained there, appropriate or slightly subnormal for height, until adulthood, except for 3 girls who reached and maintained the 50th % during or after puberty. Spontaneous pubertal development occurred within normal limits for CA and around the 50th % for BA. Except for the marked bone age acceleration, the reason for the increased statural growth and adult height in patients with the EMG syndrome is still

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02901.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Sixty‐six percent of the at‐risk persons and 74% of the partners in a large survey in Belgium have the intention of making use of predictive testing for Huntington's disease. One third of them, however, have expressed the intention of postponing the final decision for various reasons. The intention to be tested is not at all related to sociodemographic characteristics. A thorough exploration of the reasons for being in favour of or against taking the test reveals that the motivation inspiring this very personal decision is very complex. In the group of at‐risk persons, less than half of the variation in the intention to be tested is explained by the role of a series of specific reasons as predictor variables in a regression analysis. The proportion of explained variation is slightly higher in the group of partners. ‘To have certainty about my own future’ and ‘to make arrangements for the future’ play a major part in the decision of the total group. ‘Making decisions concerning children’ and to a larger extent ‘informing children about their risk status’ are important factors in deciding

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02902.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

We studied a female child with mild classical haemophilia A, presenting with a F VIII deficiency similar to that detected in her maternal grandfather. Investigations on several occasions showed that the obligate carrier mother of the proposita had normal VIII:C activity, whereas her likewise obligate carrier sister had a typical carrier VIII:C/vWf:Ag pattern. The child was a phenotypically normal female with normal karyotype. Her father had no clinical or biochemical signs of haemophilia A. RFLP‐analysis using DX13 and St14 probes each elicited one allele (5.8 and 3.4 kb, respectively) segregating along with the affected F VIII gene from the hemizygous grandfather to both his daughters and further to the haemophilic female child. The paternity of the child was analyzed using various red cell and HLA antigens and RFLP by p29C, a probe detecting polymorphic hypervariable TaqI and PstI fragments in the pseu‐doautosomal areas of the X‐ and Y‐chromosomes. All results obtained were concordant with the declared paternity. RFLP‐analysis, using single (Pst I) and double digestion (Pst I/Hha I) of DNA and a PGK probe, revealed a remarkable difference in hybridization fragments, strongly suggesting hypermethylation, and in consequence, preferential X‐chromosome inactivation in the proposita. This points to extreme lyonization as the most plausible explanation for haemophilia A in this female child. A familial tendency to abnormal premature X‐chromosome inactivation

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02903.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Cholesteryl ester transfer protein (CETP) is a protein involved in “reverse cholesterol transport” and it could play an important role in facilitating the removal of cholesteryl esters from peripheral tissues for transport to the liver or for transfer of cholesterol between plasma lipoprotein particles. Both functions may be relevant to susceptibility or resistance to atherosclerotic disease. We have studied 149 and 146 unrelated persons, respectively, for the A and B polymorphism at the CETP locus detectable with the restriction enzyme Taql. The B system is by far the more polymorphic. A search for association with risk or “anti‐risk” factor levels was conducted with the following quantitative parameters: total cholesterol, HDL cholesterol, triglycerides, apolipoprotein AI (apoA‐I), apolipoprotein B (apoB) and Lp(a) lipoprotein levels. Highly significant differences in apoA‐I concentration were found between the two categories of homozygotes in the B polymorphism. The association observed remained significant after multiplying the p value by the number of quantitative parameters used for the association tests. There was a dosage effect on the apoA‐I level of genes in the B polymorphism. We conclude that the associations observed are likely to reflect true biological phenomena. The effect of CETP genes appeared to be limited

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02904.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Bloom's syndrome has been known as a clinical entity for 34 years. Careful records of cases diagnosed throughout the world have been maintained since its recognition as an entity, and most instances of cytologically verified Bloom's syndrome have been accessioned to what has been referred to as the Bloom's Syndrome Registry since the mid‐1960s. Presented here is the fourth in a series of progress reports from the Registry of information accumulated during this long‐term surveillance of affected families, along with mention of selected recent advances that have been made in the understanding of the syndrome. 130 persons had been accessioned to the Registry by the end of 1987; 96 of these were alive, their mean age being 18.9 years. Although a number of clinical complications occur in Bloom's syndrome, the most important is malignant neoplasia. In the 130 persons in the Registry, 57 malignant neoplasms had been detected, the mean age at diagnosis being 24.8 years. Neoplasia in Bloom's syndrome is noteworthy not only because of its frequency and exceptionally early age of emergence but for its variety of histological types and sites of ori

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02905.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A case of a fetus with a satellited Yq revealed during prenatal diagnosis because of advanced maternal age is presented. This case is the 18th reported in the literature. Cytogenetic studies in the father, uncle and grandfather of the fetus revealed that the Yqs was inherited and the possible mechanisms of origin are discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02906.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Cystic adenomatoid lesion of the lung is a rare and variable malformation of unknown etiology, which may be detected prenatally. This report details the prenatal ultrasound and amniotic fluid alpha‐fetoprotein findings in a 19‐week fetus with this malformat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb02907.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY