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  • 1
    Electronic Resource
    Electronic Resource
    A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 409-412 
    Details
    ISSN: 1432-1076
    Keywords: Hyperphenylalaninaemia ; Phenylketonuria ; Maternal PKU ; Screening ; follow-up PKU girls ; Family screening
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 16-year-old boy with classical phenylketonuria (PKU) and mild mental retardation (IQ 69) was detected by the screening of mentally retarded school children in Taiwan with Guthrie's bacterial inhibition assay. The follow-up family study showed that one of his married elder sisters suffered from borderline mental retardation (IQ 75) and was also diagnozed as a classical case of PKU. She had borne one boy and one girl, both suffering from mild mental retardation, microcephaly, delay in linguistic development and severe growth retardation. This is the first known Chinese family with maternal PKU. To prevent future mental retardation caused by maternal PKU, the simultaneous establishment of a register system with a neonatal screening programe, is indicated for the follow-up of PKU girls, screening of the whole family of newly discovered PKU cases, and to exclude unrecognized maternal PKU in women who have given birth to a microcephalic child.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00439250
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Karyotypic characterization of an established human hepatoma cell line HA22T/VGH
    Amsterdam : Elsevier
    Cancer Genetics and Cytogenetics 26 (1987), S. 279-286 
    Details
    ISSN: 0165-4608
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0165-4608(87)90062-8
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Chromosome analysis on a cell line (CE48T/VGH) derived from a human esophageal carcinoma
    Amsterdam : Elsevier
    Cancer Genetics and Cytogenetics 20 (1986), S. 279-285 
    Details
    ISSN: 0165-4608
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0165-4608(86)90084-1
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Chromosomal fragile site expression in lymphocytes from patients with schizophrenia (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 702-706 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Schizophrenia is a common complex mental disorder. The lifetime prevalence of this disease is about 1% across different populations. The etiology is still unknown despite decades of intensive study. This report is aimed at studying the relationship between chromosomal fragile sites and the etiology of schizophrenia. Lymphocytes of 72 schizophrenic patients and 66 healthy controls were cultured in M medium, which is deficient in folic acid, and in medium RPMI1640 with distamycin A. G-banding was carried out on 100 metaphases of each individual. Fragile sites were characterized as specific chromosomal bands that exhibit nonrandom gaps or breaks. Culture in M medium resulted in significant differences in the total number of chromosomal lesions and the total number of cells with chromosomal lesions between patients and controls (P〈0.001), while no difference was noted after exposure to distamycin A. In the case of M medium, 17 bands in both patients and controls were recognized as expressing fragile sites nonrandomly using a statistical method based on the relationship of the binomial and F distributions. Further analysis using Fisher’s exact test revealed a significant excess of expression of a rare fragile site at 2q11.2 among patients compared with controls (P〈0.05). In the case of distamycin A induction, 13 bands were identified as having nonrandom expression of fragile sites using the same statistical method. A significant excess expression of a fragile site at 9q12 was identified among patients compared with controls by applying Fisher’s exact test (P〈0.001). Thus, our data suggest that chromosomal bands 2q11.2 and 9q12 are interesting regions that may harbor important genes associated with schizophrenia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050894
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    Paper (German National Licenses)
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