Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Preimplantation genetic diagnosis for Zellweger syndrome.
[zellweger syndrome]
To
report
on
the
first
live
birth
of
a
normal
child
after
performance
of
preimplantation
genetic
diagnosis
(
PGD
)
for
Zellweger
syndrome
(
ZS
)
.
Case
report
.
Tertiary-care
hospital
.
A
family
with
four
children
diagnosed
with
ZS
,
who
were
all
born
at
term
and
who
expired
around
4
months
of
age
.
In
vitro
fertilization
and
preimplantation
genetic
diagnosis
.
Preimplantation
genetic
diagnosis
of
ZS
in
embryos
,
and
live
birth
from
the
transferred
normal
embryos
.
After
PGD
,
two
genotypically
normal
embryos
were
transferred
back
to
the
mother
.
Pregnancy
ensued
,
and
a
healthy
baby
girl
was
delivered
in
week
40
of
pregnancy
.
The
baby
was
confirmed
as
genotypically
wild-
type
,
and
free
of
any
sign
of
ZS
.
To
the
best
of
our
knowledge
,
this
is
the
first
successful
PGD
for
ZS
caused
by
mutation
in
PEX
26
gene
,
with
the
subsequent
delivery
of
a
homozygous
normal
baby
.
