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Title: Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence
Authors: Assumpcao, J. G.
Berkofsky-Fessler, W.
Campos, N. V.
Maciel-Guerra, A. T.
Li, S. L.
Melaragno, M. I.
Mello, M. P. de
Warburton, P. E.
CUNY Mt Sinai Sch Med
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
Keywords: chromosomal abnormalities
chromosomal structure/function
clinical cytogenetics
Issue Date: 1-Dec-2002
Publisher: Wiley-Blackwell
Citation: American Journal of Medical Genetics. New York: Wiley-liss, v. 113, n. 3, p. 263-267, 2002.
Abstract: 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-q11
ISSN: 0148-7299
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Appears in Collections:Em verificação - Geral

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