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  • 1
    Digitale Medien
    Digitale Medien
    Opitz trigonocephaly syndrome: Report of two cases (1984)
    Springer
    European journal of pediatrics 141 (1984), S. 183-185 
    Details
    ISSN: 1432-1076
    Schlagwort(e): C syndrome ; Malformation, multiple congenital ; Trigonocephaly syndrome
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, small chin, short neck with loose skin, muscular hypotonia and cardiac defect. An 8-week-old girl had multiple gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while a boy who died at 28 h from cardiac failure showed multiple joint contractures, cryptorchidism and renal cortical cysts.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00443223
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Prevalence of primary adult lactose malabsorption in three populations of northern China (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 103-106 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Lactose absorption capacity was examined in 641 apparently healthy adolescents and adults (447 males and 194 females with an average age of 22.9 years and an age range of 16–46 years) using a field version of the lactose tolerance test with breath hydrogen determination. In the total sample, 89 lactose absorbers and 552 lactose malabsorbers were identified. Lactose malabsorption was most frequent in a subgroup of Han (Chinese) from northeastern China (229 of 248 subjects, 92.3%). Among 198 Mongols from Inner Mongolia, there were 174 lactose malabsorbers (87.9%). The frequency of lactose malabsorption was lowest in a group of Kazakhs, traditional herders from the northwestern region of Xinjiang (149 of 195 subjects, 76.4%). Reported symptoms of lactose intolerance were significantly more frequent in lactose malabsorbers. The findings in northern Han are similar to the reported lactose malabsorption frequency in southern (mainly overseas) Chinese, and correspond with the absence of animal milk from traditional Chinese diets. The relatively low prevalence of lactose malabsorption among the Kazakhs suggests that lactose persistence may be frequent in herding pastoralist populations of southwest Asia.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00270566
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    DNA haplotypes and frameworks linked to the β-globin locus in an Austro-Asiatic population with a high prevalence of hemoglobin E (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 171-174 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary DNA haplotypes (HT) and frameworks (FW) linked to the β-globin locus were determined by restriction fragment analysis using eight restriction enzymes on chromosomes bearing the HbA gene (HBB*A) or the HbE gene (HBB*E) in the So, an Austro-Asiatic population of northeast Thailand with an HBB*E frequency near 0.5. All HBB*E genes were present with FW2, and only two haplotypes were observed (25 HT 27-2,-+-++++-; 10 HT 41-2, +----++-). In a control group from the general population of Northeast Thailand the HT distribution was more diverse, and 2 of 20 HBB*E genes were present in FW 3. High frequencies of HBB*E in FW 3 in Southeast Asia are apparently limited to the Khmer population of Cambodia. There were no differences in the hematologic parameters in subjects homozygous for HBB*E/FW2 or HBB*E/FW3.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00286712
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