摘要:

Human fibroblasts, cultured on glass microscope slides, were examined autoradiographically for their ability to incorporate radioactivity from Na‐propionate‐l‐14C into TCA‐insoluble cell material. Cells from patients with propionic acidemia (PA) and methylmalonic acidemia (MMA), both B12‐sensitive and B12‐insensitive, incorporate little or no radioactivity and thus can be readily distinguished from cells of a number of individuals with no defects in this pathway. Incorporation in cells from non‐MMA individuals is significantly enhanced in a basal medium by high levels of glucose. This procedure should be readily adaptable for use in screening for disorders of propionate metabolism, particularly

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00634.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The autoradiographic method utilized to distinguish between fibroblasts cultured from normal individuals and those from patients with inherited biochemical blocks in the galactose pathway and in the propionic acid pathway has been adapted for use in the detection of citrullinemia and argininosuccinic aciduria. The usefullnes of such tests in screening for inherited biochemical defects is discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00635.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A new syndrome is described in a brother and a sister who show a similar range of minor dysmorphic features (frontal bossing, high palate, anteverted flares, hypertelorism, carp mouth), colobomata, and a diffuse encephalopathy in association with congenital hepatic fibrosis and childhood polycystic kidney disease. The relationship of the major features to each other is discussed and a differential diagnosis is outlined.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00636.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The cytogenetic analysis of a child with unspecific dysplastic signs revealed the karyotype: 46, XX, del(11) (q21). Two hypotheses could explain the mild phenotypical expression of this deletion:1) The material of the deficient part of chromosome 11 is genetically inert or redundant (which seems unlikely);2) “Gene‐dosis‐compensation” occurs for the loss of genes on the deficient part of chromo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00637.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The prevalence of Charcot‐Marie‐Tooth's disease (CMT) was studied in Western Norway, an area with several isolated districts with a population of 725,000 (1968). Three hereditary types were distinguished in the area: autosomal dominant CMT with an estimated prevalence of 36/100,000; X‐linked recessive CMT with a prevalence of 3.6/100,000; and autosomal recessive CMT with a prevalence of 1.4/100,00. Gene frequencies were 3 · 7. 10‐4, 1 · 9. 10‐4, and 4 · 8. 10‐4in autosomal dominant, X‐linked, and autosomal recessive CMT, respectively, while the corresponding mutation rates were 13 · 0, 5 · 5, and 3 · 5 per million gametes per generation. The penetrance was almost complete for all three variants of CMT.Strict diagnostic criteria were followed in the selection of the 37 index cases. A family investigation was carried out with 238 subjects, during which 69 secondary cases were detected. Another 57 subjects had unspecific neuropathy (Un), which did not fit a diagnosis of CMT or other neurological disease. In the diagnosis of Un, a score system was used, with age and sex corrections based on findings in a normal population.Generally, the most severe disease course was found in the recessive CMT types, but there was also more clinical variation, suggesting CNS involvement in some cases (upper motor neuron affection, cerebellar signs). Scoliosis and spinal ataxia were not infrequent, even in cases with autosomal dominant CMT.The prevalence cf Un was highest in the relatives of recessive CMT cases, with a ratio of affected to normal in sibs compatible with a hypothesis of several cases of heterozygous manifestation. In the relatives of autosomal dominant CMT cases, Un prevalence was also higher than in the population, but lower in 2nd degree relatives than in 1st degree; the ratios fitted a hypothesis of polygenic Un inheritance. Significant differences were found in the score patterns of Un in the recessive CMT families and in the autosomal dominant families, suggesting their difference of origin. The reason for clustering of Un cases in autosomal dominant CMT families is obscure, since it can be only partly attributed to early manifestation of CMT. It is suggested that Un and CMT, mainly in autosomal dominant CMT, interact to form a spectrum of differing phenotypes, so explaining the problem of “transitional forms” between CMT and other hereditary nervous disorders. Recessive CMT, being a more generalized nervous disease, attains, through differing expressivity, phenotypes which vary b

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00638.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A sibship is reported of three brothers who all manifested short stature and identical facial, digital, and genital anomalies consistent with Aarskog's syndrome. In addition, all manifested ophthalmoplegia and growth delay of prenatal onset, features uncommon among patients previously reported with this syndrome. The mother had some of the digital anomalies seen in her three boys, but otherwise was unaffected. The pattern of inheritance seen in our family and in those previously reported indicates that the syndrome is either X‐linked recessive or autosomal dominant, with limited expression in the femal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00639.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A case is presented of a male Caucasian child with the genetic constitution 47, XY, t(9p + llq+) without mosaicism. Similarities to the 9p+ syndrome are noted and findings which may be due to additional llq material are discussed. Unusual findings include partial absence of the corpus callosum and enlarged lateral and fourth ventricles.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00640.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Electromyography and biopsy of the oral‐facial musculature of a patient with craniocarpaltarsal dysplasia (Freeman‐Sheldon syndrome) supports the thesis that facial muscle hypoplasia is a significant component of this evolving syndrome comp

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00641.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Autosomal dominantly inherited cataract was detected in 20 out of 36 members of a kindred. Three members with cataract and three without cataract also had renal hyperglycinuria. The coincidence, although probably fortuitous, may call for measurements of renal clearance of glycine in cases with inherited cataract.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00642.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A study of seven pairs of monozygotic twins, identified by at least one member of each set wearing concave lenses, shows all to be concordant for near‐sightedness. A survey of the world literature reveals a total of 106 monozygotic twin pairs with myopia, 100 of them reported to be concordant for the disorder. In contrast, 41 dizygotic pairs with myopia are identified, and of these only 12 are concordant. The results of the present study are consistent with a genetic mode of transmissio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00643.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY