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1. |
Use of HLA marker associations and HLA haplotype linkage to estimate disease risks in families with gluten‐sensitive enteropathy |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 185-198
Henry J. Lin,
Jerome I. Rotter,
William J. Conte,
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摘要:
Based on a two‐locus, double recessive model, we derive formulas for the risks that relatives of individuals with gluten‐sensitive enteropathy (GSE) will also develop the disease. The calculations take advantage of: (i) the linkage between the HLA locus and one of the two proposed GSE loci, and (ii) the preferential association of the HLA‐DR3 and DR7 alleles with the GSE disease allele that occupies the HLA‐linked locus. We use Bayes' rule to quantitate the strength of the association between the GSE disease allele and the HLA marker allele. This method predicts that siblings of the proband have an overall 10% risk for GSE, which is consistent with observed family data. This predicted risk rises to 30% when siblings are HLA‐identical to the proband (also consistent with observed data) or when the sibling has the DR3 allele in the HLA haplotypes not shared with the proband. In those populations where DR7 also is associated with GSE, siblings of probands have a 10% predicted risk for GSE when only one HLA haplotype is shared with the proband and DR7 is included in the unshared haplotype. Other DR alleles are associated with much lower disease risks. By separating individuals into high and low risk groups, HLA typing identifies those individuals who would benefit from further diagnostic procedures. This general strategy should be applicable to other multilocus, marker‐associat
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00386.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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2. |
Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 199-206
A. F. Winder,
A. R. Fielder,
J. N. Mount,
J. S. Menzies,
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摘要:
Partial deficiencies of the enzymes of galactose metabolism can be associated with cataract, both directly and through maternal effects during pregnancy on enzymatically normal children. However, the associations are modest, variable and not obviously expressing cause and effect. We have recorded ophthalmological and biochemical observations including oral galactose tolerance on families with established enzyme deficiencies and/or cataracts, including possible effects during pregnancy. With the partial disorders a simple relationship between the extent of biochemical abnormality and the risk of cataract is not apparent and the association may be substantially coincidental. Cataract is common, and the attractive possibility that expression is significantly due to heterozygous or lesser deficiency of the enzymes of galactose metabolism, amenable to early dietary control of children or mothers at risk, is on present evidence not well supported.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00387.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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3. |
I‐cell disease: clinical studies of 21 Japanese cases |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 207-215
Shintaro Okada,
Misao Owada,
Takeshi Sakiyama,
Tohru Yutaka,
Minoru Ogawa,
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摘要:
Clinical pictures of 21 cases with I‐cell disease patients, 12 males and 9 females, were analyzed. Characteristic coarse facial features and shortness of stature were observed in all cases. In general, the motor development was found to be more severely retarded than the mental development of the patients. Rather little involvement of the nervous system seemed to cause somewhat acceptable mental development in some cases, and also cause the absence of epileptic seizures in all cases. Involvement of the cardiovascular system, especially progressive hypertrophic cardiomyopathy, could be highly responsible for frequent sudden death of I‐cell disease patie
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00388.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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4. |
The size of prometaphase chromosome segments Tables using percentages of haploid autosome length (750 band stage |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 216-224
Art Daniel,
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摘要:
Tables of prometaphase chromosome segment sizes (750 band stage) are presented in units of percentage of haploid autosome length designating the distances from interband borders to telomeres. The Tables utilize ISCN (1981) nomenclature.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00389.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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5. |
Agenesis of the corpus callosum and macrocephaly in siblings |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 225-230
I. D. Young,
J. Q. Trounce,
M. I. Levene,
J. S. Fitzsimmons,
J. R. Moore,
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摘要:
A brother and sister with developmental delay, relative macrocephaly and agenesis of the corpus callosum are described. The brother also had unilateral cerebellar hypoplasia and malrotation of the large bowel. Published cases of familial agenesis of the corpus callosum are reviewed and the value of ultrasonography in demonstrating agenesis of the corpus callosum in the neonate is emphasised.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00390.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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6. |
Steroid sulphatase deficiency disease |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 231-237
Gert Lykkesfeldt,
Henrik Høyer,
Hans Henning Ibsen,
Flemming Brandrup,
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摘要:
Seventy‐six ichthyotic male patients with a biochemically confirmed diagnosis of steroid sulphatase deficiency are reported. Ascertainment was based on either a previous diagnosis of placental steroid sulphatase deficiency (21 probands and 15 secondary cases), or ichthyosis with steroid sulphatase deficiency (29 probands and 11 secondary cases). The ichthyotic phenotype of the first group was indistinguishable from that of the other group, and completely fitting the classic description of recessive X‐linked ichthyosis. A prominent skin peeling in early infancy was found to be a characteristic feature of this syndrome. Maldescent of the testis was registered in 9 patients; and testis cancer had been diagnosed in 2 males with normally descended gonads. This high proportion of patients with gonadal abnormalities strongly indicates a relation with the steroid sulphatase deficiency. Corneal opacities, not affecting visual acuity, were seen in 14 out of 28 males by slit‐lamp examin
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00391.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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7. |
X inactivation patterns in two syndromes with probable X‐linked dominant, male lethal inheritance |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 238-242
Peter Wieacker,
Jürgen Zimmer,
Hans‐Hilger Ropers,
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摘要:
For Incontinentia pigmenti Bloch‐Sulzberger (IP) and Aicardi syndrome, an X‐linked dominant transmission with lethality in hemizygous males has been proposed. The typical transition from inflammation to verrucous hypertrophy and hyperpigmented skin areas in IP suggests a gradual replacement of defective cells by normal cells. This would imply a preferential inactivation of the X chromosome carrying the IP gene with a proliferative advantage of this cell population. We have confirmed this hypothesis by demonstrating that the same X chromosome is preferentially active in fibroblasts grown from normal and hyperpigmented skin of an affected girl. In contrast, X inactivation was random in a girl with Aicardi syndr
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00392.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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8. |
Sotos syndrome — autosomal dominant inheritance substantiated |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 243-246
Ingrid M. Winship,
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摘要:
Sotos syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth.A kindred has been investigated in which the father and 4 affected offspring all have the Sotos syndrome. Autosomal dominant inheritance has been postulated in the past, and the family conform to this genetic pattern.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00393.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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9. |
Trismus‐pseudocamptodactyly syndrome in a Japanese family |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 247-250
M. Tsukahara,
F. Shinozaki,
T. Kajii,
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摘要:
A family in which five individuals through three generations were affected with trismus‐pseudocamptodactyly syndrome is reported. The propositus, an 8‐year‐old boy, had a right embedded ear, inability to open the mouth fully, pseudocamptodactyly and soft tissue syndactyly of the toes. His paternal grandmother, father, paternal uncle and his paternal cousin had pseudocamptodactyly. The occurrence of the syndrome in this Japanese family indicates that the syndrome is not exclusively of Dutch o
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00394.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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10. |
Cortical blindness, growth and psychomotor retardation and postaxial Polydactyly: A probably distinct autosomal recessive syndrome |
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Clinical Genetics,
Volume 28,
Issue 3,
1985,
Page 251-254
Alejandro Hernández,
Lidia García‐Esquivel,
Martha Celina Reynoso,
Rubén Fragoso,
Miguel Angel Enríquez‐Guerra,
Zamira Nazará,
Miguel Bracamontes Anzar,
José María Cantú,
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摘要:
A 14‐month‐old female infant with a syndrome mainly consisting of cortical blindness, psychomotor retardation and postaxial Polydactyly (type B in hands and type A in feet) was studied. Two deceased sibs were similarly affected. Differential diagnosis and the review of medical literature permit the individualization of a distinct syndrome with a probable autosomal recessive pattern of inherita
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00395.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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