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

✍ Scribed by Godoy Assumpção, Juliana ;Berkofsky-Fessler, Windy ;Viguetti Campos, Nilma ;Trevas Maciel-Guerra, Andréa ;Li, Shulan ;Melaragno, Maria Isabel ;Palandi de Mello, Maricilda ;Warburton, Peter E.

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 132 KB
Volume: 113
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10701

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✦ Synopsis

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. © 2002 Wiley‐Liss, Inc.

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