Familial mosaicism of del(Y) and inv del(Y).
Cytogenet Cell Genet
; 91(1-4): 208-11, 2000.
Article
in En
| MEDLINE
| ID: mdl-11173858
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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Oligospermia
/
Y Chromosome
/
Chromosome Deletion
/
Chromosome Inversion
/
Mosaicism
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Cytogenet Cell Genet
Year:
2000
Document type:
Article
Affiliation country:
Germany