Y
micro deletions ::Do you believe
if I say that couples suffering RPL 32.5% of males were carriers of chromosome
Y micro deletions and after excluding the female
factor in 13. 5% of the cases. Y Micro deletions
: Do U honestly believe that there is a link between RPL and male carriers of Y chromosome
deletions ?? What
is your view??
What is
meant by azoospermia factor ? Molecular
genetics of severe male infertility,
% of the oligo azoospermia males. Can Y chromosome
deletions may lead
to RPL that in couples suffering RPL
32.5% of males were carriers of chromosome Y
micro deletions and after
excluding the female factor
in 13. 5% of the cases .
Male Carriers of Chromosome Y Micro deletions
Severe male infertility: can it be due to micro deletions of the chromosome of Y
long arm?? Ans: Yes. It is quite
possible. Microdeletion of Y arm of a male are the most frequent abnormal molecular genetics of severe male infertility . Such are mainly exhibited by the presence of severe oligozoospermia and non obstructive
azoospermia Nowadays these genetic alterations could be screened as routine
which is important since they are
present in approximately in 9% of the oligo azoospermia
males(OAT) .
At the
molecular level Y chromosome microdeletions affect at least
three regions known as azoospermia
factor regions. All these three regions of Y
chromosome are important in sperm production. Therefore to sumarize these three
regions are essential for a
successful spermatogenesis. Different
micro deletions have deleterious effects
in different aspects of male fertility . It is of note though the AFZ cv 2/64 deletions since men carrying them produce a higher percentage of nullisomy for the sex chromosome
and NY disomy . There is a link between male carriers of Y chromosome
deletions and RPL
was suggested . It has been
observed that in couples with RPL a significant percentage of the
males had chromosome Y micro deletions . Another study
carried out by Agarwal et al in 2015
stated that in couples suffering RPL 32.5% of males were carriers of
chromosome Y micro deletions and after excluding the female
factor in 13. 5% of the cases. Interestingly the most frequent
micro deletion was the AZFc The incidence of chromosome Y micro deletion is different in different population
since is linked to
chromosome Y haplogroups
.But another study carried out at Delhi by venkatesh et al did not
detect any micro deletion in a population of RPL in New Delhi.
Nevertheless
taking in account the population that we are
working with this novel data suggests
that micro deletions in chromosome Y
could be the cause of RPL so the study of these
chromosomal abnormalities could be offered to couples with idiopathic
abortion .
De novo Duplications / Deletions from Couples with
Normal Karyotype
Sporadic
early pregnancy loss occurs
in 10-15% clinically recognized gestations. As we have
mentioned earlier must of the cases of miscarriages are due to full chromosomal trisomies
or monosomies. Nevertheless in
some cases the cause of these abortions could be submicroscopic chromosomal changes like duplications and / or deletions
. The problems is that these structural
abnormalities could appear
de novo. This mens that even
though parents have a perfectly normal karyotype the
embryos could carry a dup/ del. In
these cases the recurrence risk would be similar
to general population With
the introduction by pre
implantations genetic testing for aneuploidies for aneuploidy screening
also in couples with normal karyotype
small dup /del have been indentified
in per implantation embryos also/ The introduction of more accurate techniques like array comparative genomic
hybridization and Next Generation
seque3ncing enable the clinicians the
possibility of detecting
these small changes in the embryo
before transfer in IVF
couples
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