8 research outputs found

    Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence

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    An 18-year-old woman was evaluated because of primary amenorrhea and hypogonadism. Chromosome analysis from peripheral blood lymphocytes revealed a nonmosaic 46,X,+mar constitution. The marker was shown to be a rearranged Y chromosome consisting of an inverted duplication of the long arm: rea(Y)(qter-q11113326326

    The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

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    Die Haut

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