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Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring.
[monosomy 21]
We
report
an
unusual
case
of
a
familial
complex
chromosome
rearrangement
(
CCR
)
,
ascertained
through
prenatal
diagnosis
.
The
fetus
carried
an
apparently
balanced
CCR
with
a
recombinant
3
-
segment
chromosome
derived
from
two
paternal
reciprocal
translocations
involving
both
homologs
of
chromosome
14
and
chromosomes
15
and
21
,
respectively
.
A
probably
normal
phenotype
was
predicted
and
confirmed
after
birth
.
His
older
sister
carried
an
unbalanced
karyotype
with
partial
trisomy
14
and
partial
monosomy
21
,
and
displayed
an
apparently
normal
,
paternally
derived
chromosome
14
that
resulted
from
recombination
between
two
derivative
chromosomes
.
Fluorescent
in
situ
hybridization
(
FISH
)
and
molecular
studies
were
essential
for
the
characterization
of
the
rearrangement
.
The
"
rebuilding
,
"
through
recombination
,
of
a
chromosome
involved
in
two
different
translocations
in
a
progenitor
,
was
demonstrated
for
the
first
time
by
molecular
analysis
.
Our
family
is
another
good
example
of
how
balanced
familial
complex
translocations
are
in
a
state
of
flux
and
can
change
from
one
generation
to
the
next
.
