摘要:

A familial balanced translocation between the long arms of chromosomes 6 and 7 is described. The break points are localized to 6q27 and 7q23. No phenotypical abnormalities were found in any of the three carriers, but spontaneous abortions were frequent and might be associated with the translocation due to unbalanced segregation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03359.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A five‐generation family with recessively inherited X‐linked myotubular myopathy was investigated. Two of the affected boys, who were siblings and were verified by muscle biopsy to have the disease, died 3 days and 3 months, respectively, after birth. They showed marked hypotonus from birth, general muscle weakness and asphyxia. Three other boys, who were probably affected by the disease, had severe asphyxia and died shortly after birth. In three of the five cases there was polyhydramnios. The muscle biopsies of the two siblings revealed predominance of small fibres with central nuclei and accumulation of mitochondria in the central parts of the fibres. In one of the boys mainly the type 1 fibres were hypotrophic. The postmortem examination revealed variation in the involvement of different muscles, the anterior tibial muscle being the most severely affected. Intrafusal muscle fibres and myocardium were apparently unaffected. There was no involvement of the spinal cord. The clinical examination of two obligate carriers in the family revealed no muscle weakness but the muscle biopsy showed pathological changes including greatly increased variability of fibre size, and many fibres with central nuclei. The findings indicate that muscle biopsy is of value in genetic counselling to detect carriers although the observed changes were unspeci

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03360.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

On a self‐administered questionnaire 31 women at‐risk for bearing children with fragile‐X syndrome (FXS) were asked to judge the magnitude of the problems they perceived to be associated with raising an affected child. An age‐ and education‐matched group of women with no family history of FXS was asked to predict the seriousness of problems they might encounter were they to bear a child with a handicapping condition. Mothers of children with FXS reported that they were experiencing fewer and different problems than FXS relatives who did not have affected children predicted they themselves would experience. The perceptions of the burden of raising a handicapped child of FXS relatives without affected children were more similar to those of the comparison group than to those of FXS mothers. This suggests that women who raise a child with FXS learn to cope with an unchangeable situation, and consequently their perceptions of the burdens ease with time. A direct relationship between the acceptability of selective abortion and the perceived seriousness of the problems associated with having an affected child was

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03361.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Female heterozygotes for the fragile X syndrome show variable levels of mental handicap from normal to severely retarded. The degree to which they are affected may depend upon whether the fragile or the normal X chromosome is preferentially inactivated, but one of the problems with the use of BUdR for the study of Lyonisation in fragile‐X heterozygotes is that it reduces the level of expression of the fragile site. Results obtained by this method will be biased if the suppression occurs preferentially in either the active or the inactive X chromosome. To confirm that BUdR does not preferentially cause repair of the fragile site on either the late or the early replicating X chromosome, a comparison was made between the percentage of active or early fragile‐X obtained using BUdR, and that obtained using tritiated thymidine in cells from the same heterozyg

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03362.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Manifesting carriers of Duchenne and Becker muscular dystrophy are uncommon but well described. Such patients are of particular importance with regard to the differential diagnosis from autosomal recessive limb‐girdle muscular dystrophy. All mothers of affected males known to the Genetic Register of Muscular Dystrophy Families in Wales were contacted, and 167 out of a possible 190 were examined. It was estimated from pedigree and creatine kinase analysis that 119 out of the 167 were carriers of the Duchenne/Becker gene. Three manifesting carriers were identified, giving the proportion affected as 3/119 = 2.5%. We estimate the prevalence of manifesting carriers to be 1 in 100 000 of the female population, a figure comparable to the prevalence of autosomal recessive limb‐girdle muscular dystrophy. During the period of the survey, several other women with similar clinical findings but without an appropriate family history were seen. We strongly suspect that some of these are also manifesting carriers of the Duchenne/Becker g

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03363.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Severe deficiency of acid ceramidase activity (4–5% of normal) was demonstrated in cultured skin fibroblasts, leukocytes and plasma from a 1‐year‐old boy who was diagnosed as being affected with Farber disease. Determination of ceramidase activity in plasma was achieved by a highly sensitive assay employing a ceramide substrate containing radiolabeled C12N‐acyl moiety (N‐lauryl). The enzyme activity in the parents' leukocytes and plasma was found to be reduced to 18–47% of the respective normal values, and that determined in a plasma specimen from a patient with I‐cell disease was about 4 times elevated above the

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03364.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

The presence of skin cancer was investigated in 111 albinos belonging to the black (Negro) population of Johannesburg, South Africa. The overall rate was 23.4%, the risk increasing with age. Identifiable risk factors included: environmental exposure to ultraviolet radiation; inability to produce ephelides (‘freckles’); and possibly ethnicity. The head was the site most commonly affected, and squamous was far more common than basal cell carcinoma. No melanomas were detected. Recommendations are made regarding prevention of skin cancer in the at‐risk

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03365.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

In an attempt to resolve conflicting evidence from the literature concerning the existence of a paternal age effect in 46,X,i(Xq) Turner's syndrome, we have analysed data on all known cases ascertained in the main population centres of Scotland and on others ascertained in England, using population controls matched for year of birth. There was a significant (P = 0.02) increase of 2.3 years in the mean paternal age of the Scottish cases, and a smaller and non‐significant increase in their mean maternal age. Logistic regression analysis confirmed that the primary association was with paternal, rather than maternal, age. For the English cases, however, there were small and non‐significantdecreasesin their mean maternal and paternal ages. The differences between the two groups were also significant, but cannot be explained by any likely source of ascertainment bias. We therefore conclude that there is no evidence for auniversalpaternal age effect in this condition, but that at least one mechanism of origin, occurring with variable frequency, may be associated with increased paternal age. Using data from this and earlier published studies, we estimate the incidence of individuals with a 46,X,i(Xq) cell line to be between 3.3 and 13 per 105female livebir

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03366.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

A patient with severe deficiency of β‐galactosidase, who developed skin lesions of angiokeratoma corporis diffusum between the 3rd and 10th month of life, is described. The activity of other lysosomal enzymes, including α‐neuraminidase, was normal. The first signs of the disease were noticed during the first month of life. By 3 months coarseness of the face and psychomotor retardation were present. In addition to angiokeratoma, he had large mongolian spots and several scattered slate‐blue spots of pigmentation over his body. With the exception of the skin lesions, the other clinical signs and the course of the psychomotor deterioration were within the clinical picture of GM1, gangliosidosis,

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03367.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

In this paper we report ade novo13/14 Robertsonian type translocation with apparent loss of band 14qll in a mentally retarded, blind 24‐year‐old male. The findings in 10 other patients with ade novoRobertsonian D/D type translocation diagnosed in this center are revie

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03368.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY