摘要:

Twenty‐two female carriers of Duchenne muscular dystrophy (DMD) presenting with myopathic symptoms have been examined. Eleven were definite carriers, aged 29 to 79 years, and 11 were possible carriers, aged 4 to 57 years. There was considerable variation in the clinical manifestations and the course of the myopathy, which in many cases resembled the autosomal recessive limb girdle type of muscular dystrophy (LGMD). Serum levels of creatine kinase were significantly greater in manifesting carriers than in non‐manifesting carriers of DMD and female patients with LGMD. Ten out of the 22 manifesting carriers were familial cases, being either sisters or mother and daughter(s). The frequency of clinical manifestations among female first degree relatives of myopathic DMD carriers is significantly greater than would be expected from the observed prevalence of manifestations among definite carriers (7.8 %). The prevalence of manifesting DMD carriers in the general female population was estimated to be 22.4 × 10‐6, which is comparable to the 19.9 × 10‐6prevalence for LGMD. The differential diagnosis between the two conditions and the pathogenetic aspects with regard to Lyon's hypothesis and to additional, possibly genetic regulatory mechanisms, are

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01694.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Ten patients displaying a uniform Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndrome are presented. The syndrome is characterized by microcephaly, hypotonia, microphthalmia, cataracts, blepharophimosis, large ear pinnae, prominent root of the nose, micrognathia, widely set nipples, camptodactyly, flexure contractures at the elbows and knees, generalized osteoporosis, dysplastic acetabula, coxa valga and vertical talus manifesting as rocker bottom feet. Marked failure to thrive and repeated lower respiratory infections led to death within the first three years of life. Evidence strongly suggestive of autosomal recessive inheritance is pres

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01695.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A patient with the Cerebro‐Oculo‐Facio‐Skeletal syndrome is described. The phenotype of the syndrome has been extended somewhat and autosomal recessive inheritance further supported by the finding of parental consangu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01696.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Two Mexican‐American children of West Texas are described: a brother and sister with a similar pattern of malformation. They have in common a tetrad of Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. Besides these two sibs, who were available for study, it is known that a total of seven members of this kindred, six males and one female, spanning three generations, have been similarly affected. Although all members of this family come from the same ethnic background, consanguinity has been denied. The mode of inheritance cannot be firmly established at this time. It is in our opinion most compatible with that of an X‐linked recessive gene with phenotypic expression in only one female due to unfavorable Lyonization. Other possibilities exist which cannot be entirely excluded. These include an autosomal dominant mutation with incomplete penetrance in at least three obligatory carrier females. Another possible mechanism is that of an autosomal recessive gene, since all members of this pedigree are of the same Mexican ancestry (Fig. 1. II‐1, III‐3, III‐6). Because all affected members exhibit the four cardinal features of this disorder: Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs, wc wish to refer to this heritable condition as the MASA syndrome until the basic defect is further char

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01697.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A case report is presented of a black mother and her son with osteogenesis imperfecta congenita. It is rare for the congenita form to survive and give birth to a similarly affected baby.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01698.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Serum dopamine‐β‐hydroxylase (DBH) and serum immunoreactive (IR) DBH levels were measured in patients with Down's syndrome. Serum DBH activity was markedly reduced in Down's syndrome patients as compared with age matched, normal controls or non‐mongoloid, disturbed children. Serum IR‐DBH levels were also markedly reduced in Down's syndrome. The possible factors responsible for the observed reduction in serum DBH levels (active and inactive enzyme levels) in Down's syndrome were inve

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01699.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The frequency of 16qhk among 2,548 individuals in various psychiatric institutions was 1.2 per 1,000, compared with 1.0 per 1,000 in 6,164 individuals found in the general population.The enlargement of chromosome No. 16 appeared, in all cases, to be due to enlargement of the heterochromatic secondary constriction area in the long arm of chromosome No. 16.The observed segregation rate of 16qhf (57 %) did not deviate significantly from that expected. There were no indications of an increase in mortality among the progeny of the 16qh+ carriers, and there was no increased frequency of abortions in carriers. No association was found between 16qh+ and any physical or mental disorders.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01700.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A disorder is described which involves persistent deciduous teeth and complete lack of eruption of the permanent teeth. An anomaly of the jaw bones leading to impaction of all the permanent teeth seems to be responsible for the observed manifestations. A family is presented with three affected individuals plus one other reputedly affected. The distribution of patients in the pedigree is consistent with autosomal dominant inheritance of the disorder reported.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01701.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Van Wijngaarden et al. (1969) described a “myotubular myopathy” in a Dutch family, of which six male members were affected, indicating a recessive X‐linked mode of transmission. They also thought that the morphology of a case reported by Engel et al. (1968) resembled that seen in their family.The present case is a male sib of the patient reported by Engel and colleagues, who has similar clinical and morphologic features to his brother, and who died at 7 months of age. Muscle enzyme histochemistry of a quadriceps biopsy revealed that most type I fibers were small and had central pale areas or plump nuclei. A smaller percentage of type II fibers also showed the same features. Biopsies of muscle from the mother and father were histologically normal including fiber type composition. Karyotypic analyses, not reported in earlier cases, were performed on the family and showed no abnormalities in modal number or of individual chromosome structure. Pedigree analysis suggests an X‐linked recessive inheritance pattern in this

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01702.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A member of a large family with retinitis pigmentosa sought genetic counselling. Recessive inheritance could be discounted as highly unlikely but observation of the pedigree failed to distinguish between autosomal dominant inheritance with reduced penetrance, and X‐linked recessive inheritance with complete penetrance in some female heterozygotes. The difference in predicted recurrence risk under these two models of inheritance is quite striking. A computerized analysis of the likelihood function for the pedigree was undertaken and reveals the X‐linked model to be more than 1W times as likely as the autosomal dominant mo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb01703.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY