Letters to the editor
Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia
Jean Pierre Siffroia, Brigitte Benzackenb, Roxani Angelopoulouc, Corine Le Bourhisa, Isabelle Berthauta, Samia Kanafania, Asmae Smahid, Jean Philippe Wolfb, Jean Pierre Dadouneaa Service
d'Histologie, Biologie de la Reproduction et Cytogénétique,
Hôpital Tenon, 4 rue de la Chine, 75020 Paris, France, and
Laboratoire de Cytologie-Histologie, Centre Universitaire des Saints
Pères, 45 rue des Saints Pères, 75270 Paris,
France, b Service
d'Histologie, Embryologie, Cytogénétique et Biologie de la
Reproduction, Hôpital Jean Verdier, 93 Bondy,
France, c Laboratory
of Histology and Embryology, University of Athens, Medical School,
Athens,
Greece, d Département
de Génétique, INSERM U393, Hôpital Necker-Enfants Malades, Paris,
France
Correspondence to: Dr Siffroi, jean-pierre.siffroi@tnn.ap-hop-paris.fr
| The first 150 words of the full text of this article appear below. |
 |
Introduction |
|---|
EDITOR
Centromeres are the specialised
regions of chromosomes that ensure normal transmission of sister
chromatids to each daughter cell after mitosis. Alphoid satellite DNA
sequences, consisting of tandemly repeated 
170 bp units present at
all human centromeres, contain the information necessary for
centromeric function,1 despite the observation of marker
chromosomes lacking detectable alphoid DNA.2-4 Dicentric
chromosomes, resulting from some Robertsonian or Y;autosome
translocations, represent a valuable tool for studying factors which
ensure that only one of the centromeres is mitotically active, thus
preventing chromosomal bridges and breakages to occur at anaphase. It
has been shown that centromeric inactivation is largely an epigenetic
event5 based on the ability of alphoid sequences to bind
specific centromeric proteins (CENPs), particularly the CENP-C protein
which is necessary for proper kinetochore
assembly.6
Here we describe a de novo dicentric Y;13 (q12;p11) translocation
chromosome found in a severely oligozoospermic patient and exhibiting a
variable pattern
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