Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion.
The most frequent Y-autosome translocations involve an acrocentric autosome and they are frequently familial with neither phenotypic nor reproductive repercussion. However, different Y-autosome translocations have been related to infertility, due to abnormal pairing of the X and Y chromosomes at meiosis and an abnormal XY-body formation or by the disruption of the AZFs (Azoospermic Factor). Rare forms of Y-autosome translocations are those resulting in an unbalanced 45-chromosome karyotype that includes a dicentric Y+autosome chromosome. We describe a new case of a familial pseudodicentric 22;Y that is carried by 19 male members of a large family without phenotypic repercussion. Cytogenetic analysis, fluorescence in situ hybridisation (FISH) and subtelomeric Multiplex Ligation-dependent Probe Amplification (MLPA) assay have been performed. All male members of the family showed the karyotype 45,X,psu dic(22;Y)(p11.2;qter).ish psu dic(22;Y) (SRY+,DYZ3+,D14/D22Z1+). In conclusion, the presence of the dicentric chromosome in the male members of the family reported does not seem to interfere with the correct progression of spermatogenesis.
Morales
C
C
Fundació Clínic per a la Recerca Biomèdica, Barcelona, Spain.
Soler
A
A
Bruguera
J
J
Madrigal
I
I
Alsius
M
M
Obon
M
M
Margarit
E
E
Sánchez
A
A
D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic