摘要:

A form of spinal muscular atrophy (S. M. A.) intermediate in severity between the infantile (Werd‐nig‐Hoffmann or type I) and juvenile (Kugelberg‐Welander or type III) forms of this disease has been defined. This is referred to as intermediate or type II S. M. A. and is characterized by proximal muscle weakness with onset usually between 3 and 15 months and survival beyond 4 years and usually into adolescence or later. The finclings in 14 patients with this type of S. M. A. are described. It seems possible that it is inherited as an autosomal recessive

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00278.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

The question of whether the 6‐P‐GD system is located in chromosome 21 was approached in 2 ways: by measuring the erythrocyte 6‐P‐GD levels in children with Down's syndrome, and by studying the segregation of the electrophoretic variants of this enzyme in families with Down's syndrome individuals. Accepting that maternal meiotic non‐disjunction is the most frequent cause of the disease, there should be an excess of AB‐affected individuals born to AB mothers. The results do not support earlier suggestions that the 6‐P‐GD locus is located i

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00279.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Lysinuric protein intolerance (LPI) is characterized by failure to thrive, diarrhea and vomiting associated with protein intake, aversion to protein‐rich food, growth retardation, hepatomegaly, hyperammonemia, and deficient urea formation after an amino nitrogen load, and increased urinary excretion of basic amino acids, especially lysine. LPI has been diagnosed in 16 patients of 10 families in Finland and in one Finnish immigrant in Sweden. In this study data were evaluated to test the autosomal recessive transmission of LPI.In 6 families out of 10 the occurrence was familial. The sex ratio of those affected was 6 : 10. The proportion of affected sibs, corrected by Apert'sa priorimethod, was 0.26. In 5 families the parental marriage was consanguineous, and in two groups of two families all four parents were descendants of one ancestor pair. The geographical distribution of the LPI ancestors was uneven as is true for many rare recessive diseases in Finland. No heterozygous effects of the LPI gene could be detected with certainty. These finclings constitute evidence in favor of the autosomal recessive transmission of LP

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00280.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Enzymatic and immunoassaies of serum ceruloplasmin were undertaken on serum samples from 100 newborn infants, their mothers, and 100 unrelated women who served as controls. The results indicate that the remarkably low levels of ceruloplasmin oxidase activity observed in the serum of neonates are not due to deficient ceruloplasmin protein synthesis but to defective copper incorporation in the synthesized protein, resulting in excess apoceruloplasmin concentration. Furthermore, serum copper studies involving both total and free copper corroborated this conclusion.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00281.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Agarose gel electrophoresis has been used in the study of serum lipoproteins in 224 presumably healthy subjects, mainly men. The application of the method for scanning and determination of serum lipoproteins has been evaluated. Pre‐beta‐lipoprotein was detected in all studied persons and made up from 10–60% of total lipoproteins. More than 40% pre‐beta‐lipoprotein in serum is suggested for the diagnosis of type IV hyperlipoproteinemia. Clinical conditions related to elevation of the pre‐beta‐lipoprotein in serum have been studied by automatic data processing using multiple regres

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00282.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Nineteen Xg blood group determinations were performed on members of a large family in which the X‐linked disease choroideremia is segregating. Six of these determinations were informative as to linkage between the Xg and choroideremia loci. Three recombination events out of a possible six support an earlier suggestion that the two loci are only loosely linke

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00283.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

An atypical pre‐β‐lipoprotein of human serum has been detected by agarose gel electrophoresis in four patients, three of whom were siblings. This lipoprotein differed from the pre‐β lipoprotein previously observed with this technique by sedimenting on ultracentrifugation at densit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00284.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

This paper reports an unusual disturbance of blinking and of eye movements in a 3‐year‐old child with a previously unreported syndrome of malformation and mental retardation. The eye abnormalities consisted of hypertelorism, antimongoloid slanting of the palpebral fissures, bilateral ex‐otropia, and ceaseless winking of the eyelids described as “sec‐saw winking”. The syndrome consisted of the eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula with a normal palate, postaxial hexadactyly of the hands and feet, pectus excavatum, short sternum, kyphosis, and profound motor‐mental retardation. A sister was similarly affected, without the described abnormal eye movements.This syndrome differs from the oral‐facial‐digital syndromes I and II in the absence of oral frenula and clefts and hypoplasia of the alae nasi and in the type of Polydactyly, clinodactyl

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00285.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

A family consisting of healthy parents and three sons was studied. The second son is normal; the oldest and the youngest son showed nearly the same type of heart failure: fibrotic valves and enormous pulmonary stenosis at the ostium, enlargement of the right ventricle of the heart, and some other abnormalities of the vessels. The boys were born at an interval of 4 years. The prominent nasal bridge, low‐set ears, and the receding mandible gave their faces a peculiar appearance. The karyotype of both children showed the lack of a chromosome of the G group and the addition of an “extra” chromosome of the size and appearance of a chromosome of the F group, or 46, XY, G‐, ? F +. The first of the boys died at 3 weeks of age, the second at 2 months of age. The chromosomes were examined by means of fluorescence a

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00286.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

A 2‐year‐old girl, who at birth exhibited lingual malformation, Polydactyly, and tachypnea and who subsequently developed severe psychomotor retardation, is described. The syndrome corresponds to the Mohr syndrome and is compared with the oral‐facial‐digital (OFD) syndrome from a clinical and genetic point

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00287.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY