摘要:

The length of the Y chromosome with its fluorescent and non‐fluorescent portion was measured in Q‐banded metaphases. The same preparations were stained by Feulgen method. The DNA content and size of the Y chromosome were assessed. The length of Y chromosome was normalized by taking into account differences in contraction rate of the heterochromatin and euchromatin. It was indicated that polymorphism of the Y chromosome size and DNA content was correlated with change in length of both the heterochromatin and euchroma

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00473.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

An attempt is made to present a more accurate description of the psychological profile of males with the fragile X syndrome after the evaluation of an unselected group of 21 affected patients. Except for one boy with slight mental retardation, all were moderately to severely mentally retarded, with retardation of motor development and pronounced speech disability. The most striking behavioral problem is hyperactivity together with concentration difficulties. A great number of patients show auto mutilation especially with hand biting, and autistic behaviour also appears in some of them.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00474.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

A virtually thymidine free medium was used to test the effects of exogenous thymidine on lymphocyte expression of the fragile‐X. De novo pathway thymidylic acid synthesis in the cells was blocked by FUdR. Our results suggest that in vitro exogenous thymidine is directly responsible for suppressing expression of the fragile‐X. More importantly, delayed addition of exogenous thymidine can negate fragile‐X expression after it has first been induced by

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00475.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

The incidence of an extra marker chromosome in the normal population is low, about 0.26 per 1,000, and that of trisomy 21 is about 1.25 per 1,000. The incidence of both these chromosomal abnormalities in the same family should be very low, if this occurs by chance.Thirteen cases of Down's syndrome in 10 families in which one of the parents had an extra marker chromosome have been reported earlier. In three of these families there were two siblings with Down's syndrome.The present report describes two families in which an extra marker chromosome was found in one of the parents and in which three of the offspring had a trisomy 21 karyotype. From the findings at Q‐ and AgNOR banding of the chromosomes it seemed probable that in one case this extra marker chromosome was an isochromosome for the short arm of an acrocentric chromosome.It seems very likely that marker chromosomes in healthy mothers are of pathogenetic importance for non‐disjunction, resulting in a trisomy 21 offspring. A finding of an extra marker chromosome in one of the parents should therefore be taken into consideration in genetic counsell

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00476.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Sixteen patients (13 males and 3 fcmales) with minor neurodevelopmental disorders from 7 families were examined in an etiologic study. In four of the families (3, 5, 6 and 7) no brain damaging factors could be traced in the prenatal, perinatal or postnatal periods, and genetic main etiologies were strongly suspected. In one family (I) alcohol abuse during the pregnancies was thought to be an etiologically contributing factor. Potentially brain damaging factors were demonstrated in at least one patient from each of the remaining two families (2 and 4), and might, in these cases, have interacted with hereditary factors.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00477.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Congenital rigidity of multiple joints poses a difficult diagnostic and therapeutic problem. There are also semantic difficulties as the non‐specific term “arthrogryposis” is often used for any individual with congenital limitation of joint movement. Many distinct syndromes present in this way and as they differ in their course, prognosis and genetic implications, diagnostic precision is crucial.A diagnostic analysis is given of 247 South African patients in whom “arthrogryposis” had been recorded, and the pathogenesis and nosology of congenital contractures are discussed in this paper. Three of these stiff joint conditions were originally described in South African patients, i.e. Liebenberg synostosis syndrome, digitotalar dysmorphism, and the Gordon syndrome of autosomal dominant cleft palate, camptodactyly and

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00478.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Three siblings with a combination of sensorineural deafness and the Charcot‐Marie‐Tooth syndrome have been investigated in a consanguineous Indian kindred. This syndrome, which to the best of our knowledge has not previously been reported, is probably inherited as an autosomal recessive tr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00479.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

During the 30 years since its description as a clinical entity, Bloom's syndrome has been diagnosed in more than 100 persons. It is believed that most of these have been accessioned to the Bloom's Syndrome Registry, which now includes 103 persons. Of those 103, 80 are alive, with a mean age of 18.2 years. Twenty‐eight malignant neoplasms have been detected, at a mean age of 20.7 years. Periodically, progress reports are being made in this journal of the long‐term surveillance of affected famil

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00480.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

We have examined 50 persons with sclerosteosis in the Afrikaner community of South Africa and 15 individuals with van Buchem disease in Holland. The clinical and radiographic manifestations of these conditions are very similar, the only notable differences being greater severity and syndactyly in the majority of the patients with sclerosteosis.The Afrikaners have Dutch antecedants and it seems likely that these autosomal recessive disorders result from homozygosity of the same faulty genes. The phenotypic variation may be due to the epistatic effect of modifying genes in the Afrikaner population.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00481.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

A family with absent tibiae, triphalangeal thumbs and polydactyly is described. Bilateral absence of tibiae is the most severe manifestation of this syndrome. The pedigree of this family suggests an autosomal dominant inheritance with variable expression. Prenatal diagnosis was made at 20.5 weeks of pregnancy. Fetal radiographs showed the presence of both tibiae; this finding was confirmed at birth.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb00482.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY