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1. |
Family studies in Bechterew's syndrome (ankylosing spondylitis) III. Genetics |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 73-89
Pal Møller,
Kare Berg,
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摘要:
The results of segregation analyses in 75 families where the proband had ankylosing spondylitis, are presented. Of the 278 adult, living first degree relatives, approximately 85% cooperated in the study. Clinical and radiographical examinations were performed and HLA typing was conducted. The results were in agreement with our hypothesis that ankylosing spondylitis is part of a syndrome where different genetic factors interact. Such known factors are HLA B27 associated disease susceptibility, susceptibility to psoriatic arthropathy and susceptibility to entero‐arthropathy. Radiographical sacro‐iliitis was restricted to HLA B27 positive relatives, and was more frequently found in relatives to probands with psoriasis than in relatives to probands without psoriasis. Environmental factors (intestinal bacteria) are known to trigger the disease at least in some persons, and we have postulated that all or most of them have the predisposition to develop disease. Thus, the syndrome has a multifactorial etiology. The phenotypic expressions of the different genetic predispositions involved, include sacro‐iliitis, psoriasis, acute anterior uveitis, peripheral arthropathy and inflammatory bowel disease. We suggest the descriptive name HEREDITARY MULTIFOCAL RELAPSING INFLAMMATION (HEMRI) for this syndrome. Ankylosing spondylitis, psoriatic arthropathy and entero‐arthropathy may be regarded as clinical sub‐types of the
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02217.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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2. |
Mucolipidosis II. The clinical, radiological and biochemical features in three cases |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 90-96
Donald T. Whelan,
Patricia L. Chang,
Peter W. Cockshott,
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摘要:
We report on the clinical, radiological and biochemical features of mucolipidosis II in three infants. One with subtle phenotypical findings died at 2 weeks of age without a specific diagnosis.A sibling who died at 2 years of age and another infant, presently 3.5 years of age manifest all the characteristic features of mucolipidosis II: extreme psychomotor delay and failure to thrive, coarse facial features, gingival hyperplasia, joint stiffness, inguinal hernia and skin induration. The corneae were normal and there was no mucopolysacchariduria.Radiologically, these infants show changes which are characteristic but not specific for mucolipidosis II.Cytologically, skin fibroblasts from these patients demonstrate the lysosomal inclusions typical of I‐Cell Disease.Biochemically, cultured skin fibroblasts show deficient activity of arylsulphatase A and B and hexosaminidase A and B. These acid hydrolases were increased markedly in plasma and in the culture medium of the skin fibroblast
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02218.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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3. |
Atypical Down syndrome and partial trisomy 21 |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 97-102
E. C. Jenkins,
C. J. Duncan,
C. E. Wright,
F. M. Giordano,
L. Wilbur,
K. Wisniewski,
S. L. Sklower,
J. H. French,
C. Jones,
W. T. Brown,
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摘要:
A case of “atypical” Down Syndrome (DS), where the proposita did not exhibit all of the clinical features of DS and hadde novopartial trisomy 21, was studied. Results from phenotypic, chromosome banding and superoxide dismutase (SOD) gene dosage studies suggest a karyotype of 46,XX,‐12, + t(12pter to 12qter::21q21 to 21q22.?2). Additional studies of such atypical cases will provide more precise sublocalization for both gene and phenotypic mapping of the bands that are responsible for the DS phen
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02219.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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4. |
Predicting zygosity in Norwegian twin pairs born 1915–1960 |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 103-112
P. Magnus,
K. Berg,
W. E. Nance,
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摘要:
Present addresses of 12,752 like‐sexed twin pairs born in the period 1915–1960 were identified. A questionnaire, concerning the similarity of pair members, was sent to all individuals. Responses were obtained from 83.7% of the subjects. The zygosity of 207 pairs was established by examination of genetic markers. By using discriminant analysis on the responses from this subgroup, functions were obtained for prediction of zygosity from questionnaire data. It was estimated that 2.4% of the pairs would be misclassified if the questionnaire responses from both pair members were used, and 3.9% if only the response from one of the twins was used. Accordingly, zygosity could be predicted with satisfactory reliability also for twin pairs where only one of the twins had responded. The predicted percentage of monozygotic (MZ) pairs among pairs where one or both twins had responded, was 39.4 (4,402/11,175). The percentage of MZ pairs was significantly lower (34.5) in death‐discordant pairs than in pairs in which both twins were alive (39.6). The zygosity questionnaire data are sufficient to adequately score twin pairs for zygosity in the great majority of
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02220.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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5. |
Results of genetic screening of donors for artificial insemination |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 113-116
Andrew Czeizel,
Istvan Szentesi,
Laszló Horvath,
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摘要:
Only 47 of 61 (77%) medical students were selected as sperm donors for artifical insemination. Fourteen were excluded because of family history 1, eye disorders 7, oligospermia 5, permanent structural chromosome aberration 1.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02221.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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6. |
Admixture analysis of high density lipoprotein cholesterol distribution in a Jerusalem population sample |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 117-127
Y. Friedlander,
J. D. Kark,
T. Cohen,
S. Eisenberg,
Y. Stein,
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摘要:
The distribution of high density lipoprotein cholesterol values (HDL‐C) in 2003 nuclear families (including both parents and one child aged 17) participating in the Jerusalem Lipid Research Clinic survey, were analyzed by a maximum‐likelihood procedure for evidence of bimodality. HDL‐C was age‐sex adjusted by the mean‐variance method to 17 year old male levels. After covariance adjustment for Quetelet's index, season, education and social class, when using untransformed data a mixture of two distributions fitted the data significantly better than one distribution in both sexes. The results indicated that 4.7% of males and 14.1% of females came from an upper distribution with mean values of 2.15‐3.15 standard deviations above the major mode.We next applied the MacLean et al. (1976) method of transformation and used a maximum‐likelihood method in which the skewness parameter was estimated jointly with the other parameters of the model. When the data were transformed the mixture of two distributions fitted the data significantly better than one for males only. We tested a mixture of three normal distributions and estimated that 6% of both males and females belonged to a higher distribution, while 1% came from a lower distribution. This model did not provide a significantly better fit to the data than a mixture of two distributions. Our findings imply that in the Israeli population there is evidence for an admixture in the distribution of HDL‐cholesterol. Segregation analysis is necessary in order to determine whether a major gene or some environmental factors are responsible for the commi
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02222.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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7. |
An investigation into the frequency of mitral valve prolapse in von Willebrand disease |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 128-131
L. C. K. UHSEL,
J. POLSTER,
H. W. RODIGER,
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摘要:
The reported extremely high incidence of mitral valve prolapse in von Willebrand patients (60%) in combination with multiple signs of mesenchymal dysplasia points to a hitherto unknown pleiotropic effect of the von Willebrand gene and needs further confirmation. Therefore, we looked for the presence of mitral valve prolapse in 19 patients with classical von Willebrand disease. While 58% of these patients had one or more physical findings which could be interpreted as symptoms of mesenchymal dysplasia, we found only one patient with a mitral valve prolapse (5.3%), comparable to the 6% incidence in the normal population. Therefore, we must conclude that there is no association between mitral valve prolapse and von Willebrand disease.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02223.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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8. |
A probable monogenic form of polyostotic fibrous dysplasia |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 132-139
M. C. Alvarez‐Arratia,
F. Rivas,
A. Avila‐Abundis,
A. Hernández,
Z. Nazará,
C. López,
A. Castillo,
J. M. Cantu,
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摘要:
A 37 year‐old female patient with polyostotic fibrous dysplasia (PFD) is described. She presented the typical “cafe au lait” spots and severe bone involvement including a maxillary osteosarcoma. The father, four sibs, two nephews, two paternal aunts and two paternal first cousins were clinically examined, and seven of them also radiologically evaluated. “Cafe au lait” spots were found in the father, three sibs, one nephew, one aunt and one first cousin. Although no definite PFD bone lesions, mild radiological abnormalities were found in the father, three sibs and one nephew. These findings were interpreted as the variable expression of a pleiotropic gene. The present observation and three previous familial cases of this entity strongly suggest the existence of a form of PFD determined by an autosomal domi
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02224.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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9. |
Clouston syndrome: an ultrastructural study |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 140-146
Victor Escobar,
Lawrence I. Goldblatt,
David Bixler,
David Weaver,
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摘要:
A previously undescribed French‐Canadian family affected with Clouston Syndrome (Hypo‐hidrotic Ectodermal Dysplasia) is described. Ultrastructural study of the hair shows disorganization of the hair fibrils with loss of the cuticular cortex. The SEM findings are consistent with the model, suggesting a biochemical defect in the keratin of the integumentary sys
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02225.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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10. |
Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23) |
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Clinical Genetics,
Volume 24,
Issue 2,
1983,
Page 147-150
P. Chieri,
N. Iölster,
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摘要:
A new case of partial monosomy 10q is described. The clinical symptoms are similar to the previous cases reported, although the segment lost is larger (q23‐qter). The mother was a balanced carrier of 46,XX,t(10;8)(q23;p23). Amniocentesis was carried out since the mother was again pregnant and the result was a female fetus 46,XX,t(10;8)(q23;p23
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1983.tb02226.x
出版商:Blackwell Publishing Ltd
年代:1983
数据来源: WILEY
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