摘要:

This paper suggests that there is probably a dominant, sex‐linked type of chondrodysplasia punctata. Clinical data are reported for three girls with such a disorder. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatological findings in the children include crythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Later on, patterned ichthyosis, follicular atrophoderma, coarse, lusterless hair and cicatricial alopecia become evident. It is assumed that about one fourth of all cases with chondrodysplasia punctata reported in the literature belong to the dominant sex‐linked t

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00115.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Chromosome studies were performed on peripheral blood lymphocytes of 28 patients with connective tissue disease (6 with progressive systemic sclerosis, 6 with systemic lupus erythematosus, 6 with anti‐nuclear antibody positive rheumatoid arthritis, 6 with anti‐nuclear antibody negative rheumatoid arthritis, and 4 with mixed connective tissue disease) and on 17 controls to determine the frequency of spontaneous as well as X‐ray (75 rads) induced aberrations. The mean spontaneous chromosomal aberration frequency for the 28 patients (9.1 %) was significantly (P =0.038) greater than that of controls (6.4 %). When patients were categorized into specific clinically designated connective tissue disease subdivisions for comparison with the controls, only X‐irradiated cells from the progressive systemic sclerosis group displayed significantly elevated levels of total chromosomal aberrations over those of the control group. The X‐irradiated lymphocytes from these patients had an average of 23.6 % aberrations per patient, while those of the control group showed an average of 14.9 % per patient

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00116.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The mode of transmission, penetrance, birth order and sex bias effects are analyzed for fibromuscular dysplasia data. These analyses were done to facilitate genetic counseling for this disease.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00117.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Two brothers with upper limb and renal anomalies have been identified. Their upper limb abnormalities were characterized by absence and hypoplasia of various bones; their renal anomalies included crossed‐fused ectopia and vesico‐ureteral reflux. Both suffered from chronic kidney failurc secondary to reflux nephropathy. An autosomal or scx‐linked mode of inheritance seems l

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00118.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

The finger‐ and palm dermal‐ridge patterns of all Swedish cases with the Sjogren‐Larsson syndrome (SLS) were studied. The dermatoglyphic patterns of the SLS material showed variations from the normal material. This indicates an early prenatal pathological influencc on the formation of dermatoglyphics i

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00119.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

It has been suggested that the form of X‐linked mental retardation with macro‐orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the Same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented suggesting that actual measurements are required for accurate evaluation of testicular s

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00120.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

A pericentric inversion of chromosome 9 was detected in the father of a child with partial trisomy involving the long arms and partial monosomy of the short arms of chromosome 9. A gene dosage effect was demonstrated for adenylate kinase 1 in erythrocytes.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00121.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

An inbred pedigree is described in which three members were affected with FND (Frontonasal Dysplasia). Two of these individuals werz products of a consanguineous mating with an inbreeding coefficient of F = 0.0391. The third affected individual (propositus), was born to a marriage in which the coefficient of inbreeding was 0.0742. The mother of the propositus, whose inbreeding coefficient was 0.0625, had borderline hypertelorism and a broad nose. Several other members of the pedigree who had hypertelorism were products of consanguineous matings. The presence of consanguinity in all individuals affected with a variety of manifestations of FND suggests a genetic mechanism for this malformation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00122.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

Clinical, cytogenetic, and immunological data of a 5‐year‐old Japanese girl with Bloom's syndrome are described. Growth deficiency, photosensitivity, and a very mild facial telangiectatic erythema were present. Cytological studies revealed chromosomal aberrations and the characteristic high frequency in sister chromatid exchanges. Immunological studies showed that the serum levels of IgM and IgA, but not IgG, were abnormally low as compared to the agematched control values and that the generation of cytoplasmic immunoglobulin‐producing cells in the peripheral blood lymphocytes, which was evaluated in thein vitropokeweed mitogen‐stimulated cultures, was markedly

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00123.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY

摘要:

In an epidemiological study of schizophrenia in a North Swedish isolate, Böök et al. (1978) reported an association betwcen schizophrenia and the genetic marker Gc2. In an attempt to confirm this observation, we examined a series of schizophrenic patients from Väster‐botton County in Northern Sweden. In our material there was no difference between schizophrenic patients and controls with respect to the frequencies of Gc groups or genes. A reanalysis of the material by Böök et al. (1978) showed that schizophrenics compared to controls had a significant increase in the frequency of the Gc 2–1 group, but not of the Gc2gene. The Gc distribution in the material by Böök et al. (1978) was similar to that previously reported by us in a series of patients with cycloid

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1980.tb00124.x

出版商:Blackwell Publishing Ltd    

年代:1980

数据来源: WILEY