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  • Title: Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).
    Author: Kroyer S, Niebuhr E.
    Journal: Ann Genet; 1975 Mar; 18(1):50-5. PubMed ID: 50043.
    Abstract:
    Partial trisomy 10q was observed in an eighteen year old girl with severe mental and physical retardation, microcephaly, a high forehead, microphthalmia, antimongoloid slants, low set ears and severely malformed extremities. A balanced translocation t(10q-;18q+), present in several family members, was identified by fluorescence and thermic denaturation techniques; the break points were 10q25 and 18q23. A comparison made with seven similar cases suggests a common, phenotypical appearance which may be of diagnostic value.
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