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Case Reports
. 2000;91(1-4):208-11.
doi: 10.1159/000056846.

Familial mosaicism of del(Y) and inv del(Y)

S Röttger  1 , J Pasantes, C Baldermann, E Reichl, P Yen, I Hansmann, W Schempp
Affiliations
Case Reports

Familial mosaicism of del(Y) and inv del(Y)

S Röttger et al. Cytogenet Cell Genet. 2000.

Abstract

Molecular cytogenetic investigation of a male proband showing oligozoospermia (OAT I-II degrees ) has led to the detection of a Y-chromosome mosaicism. This mosaicism consists of a deleted Y chromosome with deletion of most of the long-arm heterochromatin, including the PAR2, del(Y), and a Y chromosome, which, in addition to that deletion, shows a paracentric long-arm inversion, inv del(Y), with breakpoints in the DAZ gene cluster in deletion interval 6 and within the remainder of the long-arm heterochromatin of the Y. The Y mosaicism is not confined to the sterile proband but is also detected in both his father and his fertile brother. Interestingly, the percentage of inv del(Y) is highest (80%) in the proband showing oligozoospermia.

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