摘要:

Two different hereditary forms of congenital cornea plana are described: an autosomal dominant form with relatively mild symptoms, and an autosomal recessive form (CPCR) with more severe symptoms, such as decreased visual acuity, extreme hyperopia (total refraction usually 10 D or more), hazy limbus corneae, more or less pronounced opacities in the corneal parenchyma, and marked arcus senilis, often detectable at an early age.As far as can be judged from the number of cases hitherto published, cornea plana is a rare disease. In Finland, 49 caw of the recessive and seven of the dominant form of cornea plana congenita have been discovered to date, which is about twice the number of cases of recessively inherited cornea plana reported elsewhere in the world. In Finnish Lapland, the gene frequency of cornea plana congenita recessiva is estimated to be 1.3 % (about 16 patients per 100,000 inhabitants), or about four times as high as in Finland as a whole. Around the lower reaches of the River Kemijoki there is a relatively high prevalence of the recessive form of the disease. The Kemijoki pedigree includes 25 patients related to each other through their ancestors.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01924.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A group of Down's syndrome patients and a normal control population were studied in an attempt to determine which of several existing index scores based on dermal patterns could be most efficiently used as a diagnostic aid.The 183 mongoloid individuals were included in the study on clinical grounds and had 47 chromosomes with trisomy‐21,Relative frequencies of dermal patterns on palms, fingers and soles were determined and the discriminative efficiency of pattern areas was investigate

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01925.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A number of methods developed in different countries for the use of dermatoglyphics as an objective test for the confirmation of the clinical diagnosis of Down's syndrome were evaluated for a group of 308 Dutch individuals. Optimal results were obtained by the approach proposed at John Hopkins University (U.S.A.). The Hopkins composite score correctly scored 97.7 % of the individuals tested, whereas the Hopkins single pattern scoring method correctly scored 95.5 % of individuals. A simplified use of scoring methods is proposed in a forthcoming paper.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01926.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Chromosome studies in 172 cases 01 induced abortions are reported. The material comprising 212 cultures war obtained from fetal skin, placenta, amnion, mid amniotic fluid cells. Six fetuses with aberrations (3.48 %) were detected, namely two 47,XX, +C, one 47,XX,+E, one 47,XY,+G, one. 46,XX/47,XX,+C, and one 46,XX/47,XX, +G. The average maternal age for the total material was 26.5 years and for the aberrations 33.6 years. The average gestational age for the total material was 12 1/2 weeks and for the aberrations 10 1/2 weeks. The sex ratio was 0.88 for the abortions of the first trimester and 1.30 for those of the second trimester.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01927.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Data from a chromosome examination of 5,049 consecutive newborn children are presented. Major chromosome abnormalities were found in 43 (0.85 %) children.Only 6 of the 43 children were phenotypically abnormal to the extent that they could be diagnosed clinically; these six comprised a girl with Turner's syndrome, a boy with Patau's syndrome and four boys with Down's syndrome. It was remarkable that two male infants with karyo‐types 46,XY,12p‐ and 46,XY/46,XY,5p‐ were normally developed.Chromosome variants (marker chromosomes) occurred in 87 (1.72 %) of the children. The most common marker chromosomes were Yq+, Yq‐, Dp+ or Ds+ and Gp+ or Gs+ very little is known about the significance of marker chromosomes.Chromosome examination in newborn children gives the possibility of procuring incidence figures, finding families with translocations, studying segregation rates and giving genetic advice. Follow up studies of children with chromosome abnormalities and marker chromosomes compared with controls as well as treatment of children with chromosome abnormalities whenever possible are also important aspects of such

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01928.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A case is reported of an apparent total erythrocyte adenosine deaminase (ADA) deficiency in a girl suffering from severe combined immunodeficiency (c.i.d.). Four other erythrocyte enzymes investigated showed apparent normal activity. The ADA activity in erythrocytes from her parents was about half normal, suggesting that the girl had inherited a chromosome pair without information for normal red cell ADA‐isoenzymes. The suspected chromosome deficit may have affected the ADA locus only, or it may involve a more extensive part of a chromosome including the ADA locus. In another child, a boy exhibiting clinically the same immunodeficiency syndrome, the ADA type and ADA activity were found to be normal. Recently, two other cases of lack of red cell ADA activity, both affecting girls with similar manifestations of immunological deficiency, have been reported from the U.S.A. (Giblett et al. 1972). These findings indicate that coexistence of a total lack of red cell ADA activity and some immunodeficiency syndromes may be a common conditio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01929.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

This paper describes an adult patient, with gout and without any demonstrable activity of the enzyme hypoxanthine‐guanine phosphoribosyltransferase (HG‐PRT). Few of the neurological abnormalities generally associated with severe HG‐PRT deficiency were exhibited by this patient. Psychological studies, however, disclosed that some characteristics of the behaviour anomaly in the Lesch‐Nyhan syndrome are present, but only in a conceal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01930.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

Complete HG‐PRT deficiency was established by means of direct enzyme assay and autoradiography in a patient with relatively little, if any, of the neurological and psychomotor symptoms of the Lesch‐Nyhan syndromes. Family study revealed two other HG‐PRT negative males. Hair root analysis was used for carrier detection. Linkage study produced no evidence of close linkage between Xga and HG‐P

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01931.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY

摘要:

A 22‐year‐old female presented with stunted physical growth, moderate mental retardation, urinary malformation, renal insufficiency, hypercorticalism and abnormal neurological findings. Physical stigmata including hypertelorism, bilateral simian creases and abnormal dermatoglyphics were also observed. Cytogenetically, a translocation involving chromosomes No. 2 and 7 with deletion of the long arm of the latter was detected. A discrepancy in the inheritance of Kidd (Jk) blood group system provisionally suggests the localization of the relevant locus on the long arm of chromosome No

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1973.tb01932.x

出版商:Blackwell Publishing Ltd    

年代:1973

数据来源: WILEY