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  • 1
    Electronic Resource
    Electronic Resource
    Duplication deficiency syndrome in familial translocation (2q-; 5p+) (1971)
    Springer
    Human genetics 〈Berlin〉 12 (1971), S. 110-122 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This paper describes a female patient with a duplication deficiency syndrome resulting from a hitherto undescribed familial translocation (2q-; 5p+). In addition to marked mental retardation, the patient shows multiple somatic abnormalities. The chromosomal anomaly was traced in a balanced form in three preceeding generations. Besides a detailed description of clinical data, the results of chromosomal, familial and genetic studies as well as data on growth and development are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291466
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Physical fine-mapping of a deletion spanning the Norrie gene (1989)
    Springer
    Human genetics 〈Berlin〉 84 (1989), S. 22-26 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Norrie disease (ND), atrophia bulborum hereditaria, is caused by a gene defect on the proximal short arm of the X-chromosome. As shown by us and others, microdeletions spanning the DXS7 locus are not uncommon in this disorder, and there is recent evidence that, at least in some of the Norrie deletion patients, the monoamine oxidase (MAO) A and B genes are deleted as well. Molecular hybridization experiments with 19 cloned DNA fragments have enabled us to construct a preliminary long-range restriction map around DXS77, DXS7, MAO-A and MAO-B, and to localize the distal end point of an ND deletion between DXS77 and DXS7.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210665
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type (1991)
    Springer
    Human genetics 〈Berlin〉 88 (1991), S. 162-166 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An extensive linkage analysis was performed by studying ten Xp22 loci in ten families segregating for X-linked ocular albinism of the Nettleship-Falls type (XOA). Linkage was confirmed between the XOA locus (OA1) and both DXS16 (θ max=0.10, Z max=4.09) and DXS237 (θ max=0.12, Z max=2.53). Linkage was found between OA1 and the loci DXS85 (θ max=0.00, Z max= Z max=4.37), DXS143 (θ max=0.04, Z max=3.74), STS θmax=0.05, Z max=2.48), DXF30S1 (DXS278) (θ max= 0.07, Z max=8.79) and DXF30S2/3 (DXS278) (θ max= 0.00, Z max=14.93. An indication for linkage was found between OA1 and the loci DXS43 (θ max=0.10, Z max= 1.58) and DXS31 (θ max=0.12, Z max=1.55). The analysis of multiple informative meioses suggests the order Xpter(DXS31, DXS89)-(DXF30S1, DXS237)-(DXF30S2/3, OA1)-DXS143-(DXS16, DXS43)-Xcen. Various multipoint linkage analyses using the DNA loci order DXF30S1-STS-DXS237-DXS143-DXS16 significantly favour the position of OA1 between DXS237 and DXS143. These results further determine the genetic map around the XOA locus on the distal Xp and may be useful for DNA diagnosis in families with XOA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206065
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  • 4
    Electronic Resource
    Electronic Resource
    Hereditary malformation of the toes and fingers in a family with double translocation heterozygosity (1978)
    Springer
    Pediatric radiology 7 (1978), S. 56-57 
    Details
    ISSN: 1432-1998
    Keywords: Chromosomal aberration ; Translocation t (7; 12), t (2; 6) ; Brachydactyly E ; Tear drop deformity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A hereditary malformation of the metatarsophalangeal joints, called here “tear drop” deformity, and a cut off appearence of the distal phalanges of the toes is described in a family with double translocation t (7; 12), t (2; 6) heterozygosity. A bracydactyly E was also found. These disorders seemed unrelated to the chromosomal aberration
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00975341
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  • 5
    Electronic Resource
    Electronic Resource
    Peroxisomal β-oxidation defect with detectable peroxisomes: A case with neonatal onset and progressive course (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 722-726 
    Details
    ISSN: 1432-1076
    Keywords: Peroxisome ; Peroxisomal disorder ; Leukodystrophy ; Inborn error ; Fatty acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A progressive demyelinating cerebral disorder is described in a normally-appearing female infant with neonatal seizures, progressive psychomotor deterioration, deafness, retinopathy, peripheral neuropathy and loss of myelin observed on magnetic resonance imaging (MRI) scanning. MRI also showed the absence of macroscopic neocortical dysplasia which is usually found in Zellweger syndrome (ZS). Adrenal cortical function was normal. The patient died at the age of 37 months. Extensive biochemical investigations of peroxisomal functions in the patient revealed an impairment of peroxisomal β-oxidation resulting in elevated levels of very long (〉C22) chain fatty acids in plasma and fibroblasts. Moreover, elevated plasma levels of intermediates of bile acid biosynthesis such as tri- and dihydroxycholestanoic acid were found. Other peroxisomal functions were normal. Immunoblotting of the peroxisomal β-oxidation enzyme proteins in liver from the patient revealed normal responses with antisera against acyl-CoA oxidase, bifunctional protein and thiolase respectively. From these data we conclude that the patient had a deficiency of a single peroxisomal β-oxidation enzyme at the level of either the bifunctional protein or peroxisomal thiolase with retained immunoreactivity against these enzymes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01959531
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  • 6
    Electronic Resource
    Electronic Resource
    A sibship with a mild variant of Zellweger syndrome (1987)
    Springer
    Journal of inherited metabolic disease 10 (1987), S. 253-259 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver biopsy in the younger patient revealed the absence of recognizable peroxisomes. In both patients plasma levels of pipecolic acid, phytanic acid, trihydroxycoprostanoic acid and dihydroxycoprostanoic acid were elevated. The very long chain fatty acid C26:0 and the C26:0/C22:0 fatty acid ratio were elevated in plasma, but less than in classical Zellweger syndrome. In cultured fibroblasts, deficient acyl-CoA:dihydroxyacetone phosphate acyltransferase and increased concentrations of C26:0 as well as C26:1 very long chain fatty acids were found within the ranges previously established for patients with classical Zellweger syndrome. Particle-bound catalase was absent in fibroblasts. Despite the relatively mild clinical expression the biochemical abnormalities found in these patients are the result of a general peroxisomal dysfunction similar to the changes in classical Zellweger syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800071
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