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

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

Author Assumpcao, Juliana Godoy Google Scholar
Berkofsky-Fessler, Windy Google Scholar
Campos, Nilma Viguetti Google Scholar
Maciel-Guerra, Andrea Trevas Google Scholar
Li, Shu Lan Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Mello, Maricilda Palandi de Google Scholar
Warburton, Peter E. Google Scholar
Institution CUNY Mt Sinai Sch Med
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
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::q11‐qter). Deletion mapping analysis with Y‐specific STS showed that the marker lacked Yp and Y‐centromeric (DYZ3) sequences, but it was positive for Yq sequences tested. Fluorescence in situ hybridization analysis with Y and X chromosome centromeric and pancentromeric probes showed no hybridization signals. The marker chromosome is present in 100% of the cells; therefore, it is mitotically stable despite the absence of DYZ3 centromeric sequence. Hybridization with CENP‐A and CENP‐C specific antibodies localized a neocentromere close to the breakpoint.
Keywords Chromosomal abnormalities
Chromosomal structure/function
Clinical cytogenetics
FISH
Neocentromere
Language English
Date 2002-12-01
Published in American Journal of Medical Genetics. New York: Wiley-liss, v. 113, n. 3, p. 263-267, 2002.
ISSN 0148-7299 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 263-267
Origin https://dx.doi.org/10.1002/ajmg.10701
Access rights Closed access
Type Article
Web of Science ID WOS:000179171500007
URI https://repositorio.unifesp.br/handle/11600/27055

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