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Direct duplication of the Y chromosome with normal phenotype – incidental finding in two cases
Author(s) -
Kuan L.C.,
Su M.T.,
Kuo P.L.,
Kuo T.C.
Publication year - 2013
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/j.1439-0272.2012.01320.x
Subject(s) - gene duplication , biology , genetics , phenotype , chromosome , chromosomal rearrangement , y chromosome , chromosome 21 , gene , karyotype
Summary Structural rearrangement in the Y chromosome is closely involved in spermatogenesis. However, several Y chromosome variants may have no deleterious effects on male reproduction. Here, we report two cases of Y chromosomal duplication from incidental findings. Their FISH analysis revealed direct duplication of large segments of short and long arms of the Y chromosome. Nearly two intact Y chromosomes were carried in these two cases with normal phenotype.