摘要:

A newborn infant who was subsequently shown to have mucolipidosis II was noted to have a congenital angulated fracture. The appearance of the fracture led to an original clinical impression of osteogenesis imperfecta. Although pathologic fractures are frequently evident by roentgenographic examination, to our knowledge this is the first report of a congenital angulated fracture in a patient with mucolipidosis II.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00754.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A male infant with several clinical signs of Down syndrome, but with additional features not usually seen in that syndrome, was found to have a 47, XY, t(21;21) karyotype in all skin fibroblasts examined. The same karyotype occurred with very low frequency and together with a normal cell line in blood lymphocytes. We have been unable to find reports of a similar case.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00755.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

We have performed complex segregation and linkage analysis in 182 families with at least one insulin‐dependent diabetic proband. All families were typed for B histocompatibility (HLA) antigens and 118 for DR. The recessive model fit the data best, with maximum likelihood estimates of recombination between HLA DR and the susceptibility factor of 0.019. Substantial heterogeneity was suggested, with smallest estimated recombination for pedigrees whose probands have two high‐risk DR alleles. The results are compatible with a strong, tightly HLA‐linked susceptibility factor and evidence for additional non‐HLA linked genetic fa

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00756.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Dermatoglyphic studies were performed on 24 aborted human embryos in whom major chromosomal aberrations had been revealed by amniocentesis. Prints were obtained from the embryos by the Hollister method. An analysis was done using patterns on finger tips and theatdangle was measured in degrees. The Penrose classification was used to describe the locations of the various palm and foot patterns. Twenty‐two out of the 24 embryos showed dermatoglyphic deviations that correlated well with the cytogenetic diagnosis. The fetuses had the following disorders: 7 with trisomy 21, 2 with trisomy 18, 2 with trisomy 13, 3 with structural autosomal aberrations and 10 had a sex‐chromosome aberrat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00757.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

The Sjögren‐Larsson syndrome (SLS) is characterized by congenital ichthyosis, spastic dior tetraplegia and mental retardation. The inheritance is autosomal recessive. All 36 patients with SLS alive in Sweden in 1980 were studied with regard to ichthyosis. A slight or moderate generalized hyperkeratosis, less pronounced in the face, was already present at birth. Collodion‐like membranes were never seen. The ichthyosis developed to its full extent during infancy. It was sometimes slight but most often moderate. Three types of hyperkeratosis were observed: dandruff‐like, lamellar and non‐scaly. These types occurred in various combinations. The skin changes were concentrated in the neck, flexures and lower abdomen, in which regions the scales were often dark. The non‐scaly hyperkeratosis produced characteristic and easily visible skin markings. Generalized erythema was rare, especially in adults. The DNA synthesis of the epidermis and the production of a horny layer were increased. Hair and nails were normal, as also was the abilit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00758.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylsulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with cerebroside sulfate. In contrast, cultured fibroblasts contained about 10–20 % of normal arylsulfatase A with properties identical to properties of normal fibroblast enzyme, except that it showed no cerebroside sulfatase activity. Growing fibroblasts in the cerebroside sulfate loading test had an attenuated rate of sulfatide hydrolysis. A reexamination of the cerebroside sulfatase reaction revealed that while only limited hydrolysis occurred with low concentrations of taurodeoxycholate or chelate (type I activation), significant hydrolysis of the natural substrate did take place with high concentrations of cholate (type II activation). This suggests that there is a partial cerebroside sulfatase defect in this atypical form of metachromatic leukodystroph

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00759.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Pure gonadal dysgenesis has been described in several sibships. We report a pair of monozygous twins and their younger sister with secondary amenorrhea. They had no associated congenital anomalies. Plasma FSH levels were elevated and the ovarian biopsies showed absence of follicular structures. Their karyotypes were 46XX, further supporting the concept that this form of familial gonadal dysgenesis is an autosomal recessive defect.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00760.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

A familial pericentric inversion of chromosome 8 is described. The break points were localized by a high resolution chromosome banding technique and found to be inv(8)(p23.108q12.100). None of the family members had an unbalanced product of the inversion. There were no phenotypical abnormalities in the carriers. The break points and segregation pattern are compared with those of previously reported pericentric inversions of chromosome 8.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00761.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00762.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Analysis of the karyotype of a sterile 34‐year‐old man, with slight mental retardation and small stature, but without significant dysmorphism, showed the presence of a ring chromosome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00763.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY