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  • 1
    Electronic Resource
    Electronic Resource
    Molecular analysis of a patient with Beckwith-Wiedemann syndrome, rhabdomyosarcoma and renal cell carcinoma (1994)
    Springer
    Journal of human genetics 39 (1994), S. 225-234 
    Details
    ISSN: 1435-232X
    Keywords: Beckwith-Wiedemann syndrome ; rhabdomyosarcoma ; renal cell carcinoma ; insulin-like growth factor II gene ; loss of heterozygosity ; loss of imprinting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We described a patient with Beckwith-Wiedemann syndrome associated with rhabdomyosarcoma (RMS), and renal cell carcinoma (RCC). Karyotypes of peripheral lymphocytes and RMS cells were normal. DNA analyses showed maternal loss of heterozygosity (LOH) at 11p15 region in RMS but not in RCC. The insulin-like growth factor II gene (IGF2) was found to be expressed at a moderate level in RMS but not in RCC byin situ hybridization. Each of parental allele-derivedIGF2 transcript was detected in RCC, while maternal allele-derived transcript was weak in RMS because of maternal LOH. These results suggest that (1) loss of imprinting (LOI) ofIGF2 might be responsible for BWS, (2) on the other hand, LOI itself might not induce tumor occurrence in tissues where the control of tissue-specific expression ofIGF2 is maintained, (3) increased expression ofIGF2 due to maternal loss of a putative controller gene forIGF2 at 11p15 might predispose to sustaining tumorigenic mutations and tumor progression, (4) loss of a putative onco-suppressor gene at 11p15 might induce RMS occurrence. The cause of RCC was thought to be different from that of RMS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01876842
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  • 2
    Electronic Resource
    Electronic Resource
    The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32 (1998)
    Springer
    Journal of human genetics 43 (1998), S. 32-36 
    Details
    ISSN: 1435-232X
    Keywords: Key words Mesomelic dysplasia Kantaputra type ; CA-repeat marker ; Linkage analysis ; Logarithm of odds (lod) score ; Haplotype analysis ; Human HOXD genes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mesomelic dysplasia Kantaputra type (MDK) (MIM *156232) is a new autosomal dominant skeletal dysplasia characterized by dwarfism, shortening of the forearms/lower-legs, carpal/tarsal synostosis, and dorsolateral foot deviation. We studied a Thai family in which 15 members in 3 generations were affected with MDK. With reference to the breakpoints of a balanced translocation [t(2;8)(q31;p21)] in patients from a previously reported Italian family with a skeletal dysplasia that appears similar to MDK, a linkage analysis was performed in the Thai family using 50 CA-repeat markers mapped to nearby regions (2q22-q34 and 8p24-p21) of the translocation breakpoints. The results clearly ruled out a linkage of MDK to marker loci at the 8p24-p21 region, whereas all nine affected members available for the study shared a haplotype at four loci (D2S2284, D2S326, D2S2188, and D2S2314) spanning about 22.7 cM in the 2q24-q32 region. The computer-assisted two-point linkage analysis revealed maximum logarithm of odds (lod) scores of 4.82, 4.21, 4.82, and 4.21 (θ = 0) at these loci, respectively. These data indicated that the MDK locus is in the vicinity of D2S2284 and D2S2188 loci that are most likely mapped to 2q24-q32.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050033
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  • 3
    Electronic Resource
    Electronic Resource
    A severe case of Moebius syndrome with calcification on the fourth ventricular floor (1998)
    Springer
    Journal of human genetics 43 (1998), S. 62-64 
    Details
    ISSN: 1435-232X
    Keywords: Key words Moebius syndrome ; Calcification ; Arthrogryposis multiplex congenita ; Blood supply disturbance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report the case of a Japanese girl with a severe type of Moebius syndrome. Her morphological features were a mask-like face, limitation of horizontal eye movements, severe bulbar palsy, multiple and bilateral arthrogryposis including the elbow, knee, and ankle joints, and clubfeet. After birth, her general condition became worse because of repeated apneic spells and aspiration pneumonias due to dysphagia. She finally required tracheotomy. Computed tomography (CT) of the brain revealed minute calcifications on the fourth ventricle floor; this may have been due to severe damage to the brain stem. It is most likely that the various manifestations in our patient were due to disturbance of the blood supply to arteries perfusing the brain stem and to some other arteries, at a critical stage of fetal development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050039
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    Paper (German National Licenses)
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