摘要:

We had the opportunity to study a family, five of whose members were affected by the Hallervorden‐Spatz disease (three males and twin girls). The characteristics of the condition were analyzed and compared with those cases considered by other authors to be affected by the condition. Intrafamilial and interfamilial variations were analysed, and it was the latter that contributed most to the overall variation of the condition. It was clearly established from the reported cases and our family that this is an autosomal recessive condition (P>0.23 ± 0.08). It is suggested that the condition probably originated in Europe and that it is caused by an inborn error of metabolism related to neuromelanin and the dopaminergic system.The condition affects the muscular tone and voluntary movements progressively, making voluntary coordinated movements, and chewing and swallowing almost impossible, and in the last part of its development mental deterioration, emaciation, severe feeding difficulties and visual impairment are common clinical manifestations. The ages of both onset and death are distributed in a unimodal curve. The mean survival time after diagnosis was 11.18 ± 7.8 ye

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00842.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00843.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A case is described of a female infant, who was trisomic for the terminal bands of the long arm of chromosome 12. Congenital abnormalities were present. Cytogenetic analysis on the proband's parents revealed the father to have a rare, simple translocation involving chromosomes 12 and 18.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00844.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Rapid and sensitive micromethods for the study of alcohol dehydrogenase and aldehyde dehydrogenase isozymes in skin extracts, cultured fibroblasts and other organs are presented. Possibilities for the application of these techniques to the study of interindividual variations in response to alcohol are discussed. While fibroblasts cultured from a skin biopsy from one Japanese individual revealed a heterodimer (ADH22‐1) of alcohol dehydrogenase, skin extract from another Japanese showed a homodimer (ADH22‐2). Up to four isozyme sets for aldehyde dehydrogenase (ALDH) were detected in various human organs and at least three sets were found in skin and fibroblast extracts. Our preliminary data on liver, stomach, and skin indicate that ALDH is polymorphic and several loci are concerned in the determination of these isozyme s

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00845.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

With the increased use of routine ultrasonography at the time of genetic amniocentesis, twins are increasingly likely to be discovered at the time when the procedure is to be carried out. In the presence of twins the likelihood of finding an abnormality may be significantly increased, but at the same time problems such as discordance between the twins for the abnormality, or the inability to test both twins may occur. This altered situation may affect the parents' decision as to whether or not to undertake amniocentesis, and the need for additional counseling prior to proceeding with the amniocentesis is stressed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00846.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A case is reported of a liveborn with the karyotype 47, XXY,5p ‐. This is the first known case of a liveborn with apparently both Klinefelter and Cri du Chat syndrome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00847.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

To assess the contribution of genetic factors to the etiology of congenital hydrocephalus and to establish empiric recurrence risks for use in genetic counseling, records were reviewed on all patients with this diagnosis seen from 1968 to 1977. A total of 205 patients with documented hydrocephalus were identified in whom a specific non‐genetic etiology could not be established. Of the 205 patients, 88 (57 M, 31 F) had aqueductal obstruction, 77 (49 M, 28 F) had communicating hydrocephalus, 26 (8 M, 18 F) had the Dandy‐Walker syndrome, and 14 (7 M, 7 F) had other anatomic lesions. The 205 patients had a total of 353 full siblings, five with hydrocephalus (1.4 %). Of these five, four were male siblings of male patients with aqueductal obstruction, suggesting that these patients constitute a subgroup at high risk of having a genetic disorder. The overall recurrence rate among siblings of this group was 6 % (12 % for male sibs), suggesting that up to 25 % of cases of aqueductal obstruction in males may be the result of an X‐linked recessive disorder. The recurrence risk for siblings of other patients with hydrocephalus appears to be quit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00848.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A 3‐year‐old, male patient with trisomy 17q231qter due to a paternal t(5;17)(p151;q231) is compared to three other patients reported in the literature who are trisomic for the same segment due to a familial t(17;21)(q23;q22). The features common to the four patients are: profound mental retardation; dwarfism; frontal bossing and temporal retraction; narrow squinty eyes; thin lips with overlapping of the lower lip by the upper lip; very low‐set and abnormal ears; cleft palate; and hyperlaxity of the ligaments. It thus seems possible to delineate a new cytogenetic syn

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00849.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00850.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00851.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY