Letters to the editor
Rescue
from the effects of trisomy 13q32
qter owing to skewed X inactivation
in a der(X)t(X;13)(p21;q32) carrier
| The first 150 words of the full text of this article appear below. |
EDITOR
X;autosome translocations are very rare
and occur at an estimated frequency of 1:300 000.1
According to the hypothesis of Lyon,2 there is a random
and irreversible inactivation of one of the two X chromosomes in the
female, occurring at an early stage of development. In patients with an
X;autosome translocation, X inactivation occurs at random but is
followed by cellular selection, favouring the better genetic
balance.3 Accordingly, nearly 95% of patients with
balanced X;autosome translocations show a skewed inactivation of the
normal X chromosome in almost all cells, thereby avoiding somatic
monosomy or X chromosome disomy, while patients with unbalanced
X;autosome translocations have the der(X) constantly inactivated in
91% of the cases in order to obtain the most optimal balance of the
genome.1 We report here a woman who was referred for
chromosome analysis because of four consecutive first trimester
spontaneous miscarriages following the birth of a healthy daughter.
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