Help! risk of traslocation chromosome 3-12

Gianfranco Durin durin at alpha.ien.it
Tue Nov 7 12:26:48 EST 1995


Hi all,
I have a (big) problem with my chromosomes, I hope someone could help me...
Sorry, I am not expert and I try to translate the terms from italian, so
sometime I quote a term by (??).
The result of my chromosome exam has been:
----------------------------------
46,XY,t(3,12)(p21:p13). Presence of a balanced traslocation between chromosomes
3 and 12.
----------------------------------
I and my wife made this exam after two spontaneous abortions both at the 6th
week. The examinator reported the following possibilities for the fetus:
i) 'normal' chromosomes 3 and 12: no problem
ii) both chromosomes 3 and 12 are translocated: no problem again
iii) chromosome 3 is translocated and 12 is normal: This situation is
compatible with spontaneus abortion, as no children affected by partial
monosomy (??) of chromosome 3 of this entity (3p21-3pter) has been described in
the literature
iv) chromosome 3 is normal and 12 is translocated: A double chromosomic
unbalance (partial trisomy (??) of chromosome 3 and partial monosomy of
chromosome 12). This situation is compatible to a spontaneus abortion or,
RARELY, with a child affected by deformities and mental desease. (He told us
that he found only ONE case of this type reported in literature). 
Thus he concluded that the risk of children affected by anomalies is between 1
and 10%.
I must add that I do not know yet if one of my parents have this translocation
and that I am the first of three sound children.
Has anybody have more information or suggestions/comments on it?

Thank you very much in advance

Gianfranco Durin
-- 
Istituto Elettrotecnico Nazionale
Galileo Ferraris
C.so Duca degli Abruzzi 24
I - 10125 Torino Italy
e-mail: durin at alpha.ien.it 
	durin at omega.ien.it




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