摘要:

An abnormal level of35S‐sulfate labeled mucopolysaccharides was found in cultured amniotic fluid cells from a pregnancy, at risk for the Hunter syndrome, with a female fetal karyotype. Subsequent prenatal analyses suggested heterozygosity for the X‐linked Hunter syndrome, and this was confirmed by clonal analysis of fibroblasts of the child after birth. The possible implications of abnormal biochemical results in association with a female karyotype in the prenatal diagnosis of the Hunter syndrome are discus

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01749.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Common sources of error in the diagnosis of lysosomal storage diseases by ultrastructural examination of skin specimens have been identified in a series of biopsies from 72 patients. Four principal factors have emerged as leading pitfalls and sources of error in diagnosis. First, the skin biopsy technique itself may lead to alterations of normal skin ultrastructure. Second, artifacts may be produced during fixation and preparation of tissue for electron microscopy. Third, cellular organelles and structures normally present in human skin may be mistakenly interpreted as pathological. Fourth, the use of cultured skin fibroblasts for ultrastructural identification of storage material is often accompanied by artifacts induced in tissue culture and is not recommended. Recognition of these common problems may aid interpretation of the fine structure of skin abnormalities. Furthermore, when skin biopsy specimens are used as the primary source of diagnostic material, correlation of both skin ultrastructure and assay for specific lysosomal enzymes in cultured dermal fibroblasts will facilitate diagnostic accuracy.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01750.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A simple procedure designed specifically to detect linkage for rare recessive diseases is described. The method uses information on identity by descent scores for a pair of sibs at a marker locus conditioned on the number of affected sibs in the pair. A procedure for estimating the recombination fraction is described, and a table facilitating the likelihood ratio test of linkage is provided.The method, when applied to a collection of multiplex families segregating for juvenile diabetes mellitus, suggests the possibility that this disease is linked to the HLA complex. The method is found to compare favorably to the maximum likelihood approach, for which the computer program LIPED gives a maximum lod score of 2.48 at a male and female recombination fraction of 8 = 0.20.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01751.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A brief introduction to the Danish Cytogenetic Central Register (DCCR) is given, and possibilities, principles and problems concerning the establishment and maintenance of a national cytogenetic register are presented.Various data carrier media for registers in general are discussed, of which the magnetic disc is considered most appropriate. General principles for programs capable of performing insertions, deletions and other modifications in the data base are outlined as well as the principles for the programs in the DCCR.The individual records should preferably be identified by aid of a central person registration number (CPR) rather than by name. The data should be stored and sorted by this identification in order to facilitate retrieval of a desired record. The structure of the records is discussed with regard to prevention of the occurrence of certain errors as well as the optimization of processing.Flexibility and economy of space are achieved by using programs able to handle records of unequal length, and problems occurring in connection with this are discussed. The question of how to protect sensitive data is dealt with, and two different methods used in the DCCR are outlined. Programs capable of analyzing karyotypes with the purpose of recognizing various cytogenetic syndromes have been developed for use in the DCCR. Various examples of computing times of typical program runs are presented.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01752.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

This report describes and discusses the occurrence in two sisters of a syndrome consisting of onychotrichodysplasia, chronic neutropenia and mild mental retardation. Family studies revealed parental consanguinity and another possibly affected sister, who died in childhood. Analysis of these cases together with one previously reported case permits the delineation of a distinct syndrome probably caused by an autosomal recessive mutation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01753.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Monoamine oxidase (MAO) and catechol‐o‐methyl transferase (COMT) activities have been measured in fibroblasts from nine healthy controls, three patients with maple syrup urine disease (MSUD) and six patients with Lesch‐Nyhan syndrome. Both A and B types of MAO activity are found in these cell lines. In comparison to controls, the MAO activity is significantly reduced in cells from patients with Lesch‐Nyhan syndrome. A different situation has been observed in the cell lines from MSUD patients: one showed a high MAO activity, another a significantly reduced activity, and the third was in the range of the normal controls. COMT activity is also present in these cells, but with a wide variation. No specific differences have been noted among the controls and the mutan

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01754.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Variable expression and penetrance of dominantly inherited disorders present problems in diagnosis and counseling. The variation in clinical findings within a family with an autosomal dominant skeletal dysplasia is presented. In some members only shortened metacarpals were found, as seen in classic Brachydactyly E. Others presented with more severe and generalized skeletal involvement, such as is found in some of the spondyloepiphyseal dysplasias. This family may represent the true spectrum of Brachydactyly E; they may be affected with a specific spondyloepiphyseal dysplasia; or they may represent a new syndrome. The authors favor the first possibility and feel that this family serves to emphasize the importance of examining all affected members in a kindred with an autosomal dominant disease.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01755.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Trisomy for the long arm of chromosome 20 is described in a severely affected 11‐month‐old girl. Her mother is heterozygous for a balanced t(16;20) translocat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01756.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Genetic heterogeneity complicates genetic counseling because the correct mode of inheritance must be determined independently for each pedigree. When autosomal and X‐linked dominant inheritance mechanisms are known, as for example with retinitis pigmentosa, then only families where male‐to‐male transmission is observed may be readily counseled. The other pedigrees may be autosomal but lack male‐to‐male transmission due to chance segregation. Since only the pedigrees without male‐to‐male transmission are analyzed for their mode of inheritance, there is an ascertainment bias which must be corrected when evaluating the likelihood of the two inheritance patterns. A methood to correct for this bias using conditional likelihoods is given, along with examples to demons

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01757.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

The cytogenetic analysis of a 7‐month‐old retarded girl with clinical signs compatible with partial trisomy 13 revealed a translocation t(4;13)(q33;ql4) and an additional derivative chromosome 13. This karyotype probably resulted from 3:1 segregation during meiosis of the patient's mot

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb01758.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY