摘要:

X‐linked Hunter syndrome (MPS II) is presently thought to exist in two clinically and genetically distinct forms, mild and severe, which are biochemically indistinguishable. However, two sibships have been studied in which both mildly and severely affected children are present. Therefore, genetic counseling for families with MPS II should be reconsidered to take into account the possibility of heterogeneity within a family in terms of the degree of psychornotor retardation and potential longevit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01323.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

More than 80 % of the first degree relatives of 106 patients with iron overload ‐ 97 with idiopathic haemochrornatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H.) ‐ were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relatives who presented with some anomaly were submitted to a desferrioxamine test and, if the latter showed a high urinary iron output, to a liver biopsy. While absent in relatives of A.H. patients, iron overload was present in 78 out of 499 relatives of I.H. patients: 29 major and 49 minor forms. The major forms involved the sibships almost exclusively. The genetic analysis showed much evidence in favour of a recessive or rather intermediate form of inheritance, with heterozygous developing minor forms. However, other modes of transmission, especially poly‐genic (probably oligogenic), cannot be totally excluded. Data from recent studies showing a strong correlation between I.H. and certain HLA antigens do not conflict with the above conclu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01324.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A detailed cytogenetic analysis of a multiple line mosaic translocation carrier oligospermic infertile male is reported. The role of translocation mosaicism in gametogenetic and reproductive failure and the origin of this complex mosaic are briefly discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01325.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Y chromosome variation has been studied in three groups of Norwegian males: 35 boys from an adolescent psychiatric hospital; 45 men from a hospital for hard‐to‐manage or dangerous, psychotic men; and 26 boys from two ordinary school classes.Y chromosomes with 1, 2, and 3 brightly fluorescing bands were found in all three groups. One boy carried a Y with no bands. The mean values of the Yf/Yq ratio were not significantly different in the three groups (Yf is the length of the distal, brightly fluorescing part of Yq). Two cases of XY/XYY mosaicism were found among the psychotic men.The study shows that the human species is polymorphic with regard to the size of the Y chromosome, i. e. the number of fluorescent bands in the long arm. No phenotypical manifestation of this polymorphism, particuIarly as regards behaviour, was fo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01326.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Pachyonychia congenita and steatocystoma multiplex are each rare conditions. It is still not widely appreciated that they are both manifestations of the same autosomal gene. Extensive clinical, X‐ray and laboratory investigations on two affected members of a family, in which three generations are known to be affected, failed to reveal any specific abnormality other than the skin and nail lesion

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01327.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

This report describes and discusses the very rare occurrence of two heritable traits, the Saethre‐Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt‐losing type) in a female infant whose father presents the clinical manifestations of Saethre‐Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining acrocephalosyndactyly and urogenital anomalies are discussed and com

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01328.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A material of normal Danish families was tested for a number of genetic marker systems and analyzed for linkage. For the Colton‐Kidd relationship the lod score was + 2.57. The Kidd system has earlier been tentatively assigned to chromosome 7 (Shokeir et al. 1973). The present data therefore permit a tentative assignment to chromosome 7 of the Colton system as well. The data also suggest that the discovery by Chapelle et al. (1975) of a conjunction of monosomy for chromosome 7 in the bone marrow of certain leukemia patients and absence of Colton antigen from the red cells may now be interpreted as being connected with location on chromosome 7 of the Colton syste

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01329.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Sonolucent areas in the region of the kidneys were demonstrated by ultrasound in a 23‐week‐old fetus. These sonolucent areas persisted and enlarged during the pregnancy and the infant had the Potter phenotype and Potter type 2A dysplastic kidneys at birth. The use of prenatal sonographic evaluation of the fetal kidneys is discus

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01330.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb01331.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY