Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence.
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.
Assumpção
Juliana Godoy
JG
Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Berkofsky-Fessler
Windy
W
Viguetti Campos
Nilma
N
Trevas Maciel-Guerra
Andréa
A
Li
Shulan
S
Melaragno
Maria Isabel
MI
Palandi de Mello
Maricilda
M
Warburton
Peter E
PE
D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D002503:Centromere / Q000235:genetics*; D002871:Chromosome Banding; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D000091402:Prohibitins; D012729:Sex Chromosome Aberrations