17-18 Trisomy in a Japanese Infant

Full text

1580
Case
Reports:
17-18
Trisomy
Canad.
Med.
Ass.
J.
June
17,
1967,
vol.
96
17-18
Trisomy
in
a
Japanese
Infant
R.
B.
LOWRY,
M.B.,
B.Ch.,
F.R.C.P.[C],*
MARGARET
J.
COREY,
Ph.D.
and
J.
R.
MACLEAN,
M.D.,
Vancouver,
B.C.
T^NUMERATION
of
the
frequency
of
malfor-
¦"
mations
in
different
races
may
suggest
fruit-
ful
avenues
of
investigation
into
etiology.
The
specific
syndrome
of
clinical
anomalies1
associ¬
ated
with
the
17-18
trisomy
syndrome
has
been
observed
primarily
in
the
Caucasian
population.
To
our
knowledge,
only
two
cases
of
17-18
trisomy
have
been
reported
in
infants
of
Japan¬
ese
ancestry.2'3
The
present
communication
re¬
ports
a
third
such
case.
G.M.,
a
female
infant
weighing
2860
g.,
was
born
on
November
25,
1965,
after
a
full-term
pregnancy.
This
was
the
third
pregnancy
of
the
42-year-old
mother
and
the
second
live-born
infant
of
healthy,
unrelated
Japanese
parents.
The
baby's
condition
at
birth
was
only
moderately
satisfactory
in
that
the
Apgar
score
at
one
minute
was
5
and
at
five
minutes
was
9.
She
improved
after
oxygen
was
administered
and
suction
used
to
clear
the
airway.
Examination
revealed
the
following.
The
head
was
normal
in
shape.
The
anterior
fontanelle
was
markedly
enlarged
but
not
bulging.
The
facies
was
normal
(Fig.
1),
but
the
ears
were
low
and
had
dysplastic
features.
The
whole
body
was
covered
by
dark
hair,
which
was
most
marked
on
the
extremi¬
ties.
The
heart
was
in
the
normal
position
and
no
thrills
were
palpable,
but
a
systolic
murmur
was
heard
all
over
the
precordium.
The
liver
was
palp¬
able
2
cm.
below
the
right
costal
margin.
The
geni-
talia
were
female,
with
enlargement
of
the
clitoris.
The
infant
cried
well
and
could
move
all
limbs
though
there
was
some
generalized
hypotonia.
The
fingers
were
held
in
a
clenched
position,
with
the
second
digit
overlapping
the
third
and
fourth
(Fig.
2),
but
could
be
straightened
passively.
"Rocker-
bottom"
feet
were
not
present.
The
diagnosis
of
trisomy
17-18
was
suspected.
The
baby
was
discharged
home
with
the
mother
and
readmitted
to
hospital
at
the
age
of
3
months.
There
was
evidence
of
gross
failure
to
thrive;
she
weighed
2750
g.
and
had
congestive
heart
fail¬
ure.
The
baby
died
two
weeks
later,
and
an
autopsy
revealed
an
atrial
septal
defect,
a
ventricular
septal
defect,
a
patent
ductus
arteriosus
and
a
coarctation
of
the
preductal
aorta.
The
pulmonary
valve
was
bicuspid.
The
right
kidney
had
a
double
ureter
which
extended
all
the
way
down
to
the
bladder,
the
upper
segment
opening
into
the
lower
portion
of
the
trigone
and
the
lower
segment
opening
into
the
upper
portion
of
the
bladder.
Fig.
1..Facies
of
the
patient.
A
small
mouth
is
fre¬
quently
seen
in
this
syndrome.
Genetic
Studies
The
dermal
patterns
substantiated
the
clinical
sus¬
picion
of
17-18
trisomy.
There
was
an
arch
pattern
on
all
20
digits.
The
axial
triradius
was
in
a
proximal
position
and
there
were
no
interdigital,
thenar
or
hypothenar
patterns,
i.e.
no
loops
or
whorls.
The
hallucal
patterns
showed
distal
loops.
Chromosome
analysis,
carried
out
on
a
microcul-
ture
of
peripheral
leukocytes,
revealed
a
modal
num¬
ber
of
47
chromosomes
with
an
extra
chromosome
in
the
17-18
group
(Fig.
3).
?From
the
Division
of
Medical
Genetics,
Department
of
Pediatrics,
University
of
British
Columbia,
and
The
Health
Centre
for
Children,
715
West
12th
Avenue,
Van¬
couver,
B.C.
Reprint
requests
to:
Dr.
R.
B.
Lowry.
Division
of
Medi¬
cal
Genetics,
University
of
British
Columbia,
715
West
12th
Avenue,
Vancouver
9,
B.C.
Fig.
2..Showing
the
overlapping
fingers.

Canad.
Med.
Ass.
J.
C
1718
T
o'
June
17,
1967,
vol.
96
CASE
REPORTS.
17-18
TRISOMY
1581
Fig
.
3.-Karyotye.
.........
...o. so...
the
I1i,
1
1"
.~~~~~~J7~~2
Fig.
3
-Karyotype
showing
the
extra
chromosome
In
the
17
18
group.
COMMENT
There
is
no
reason
to
suppose
that
the
fre-
quency
of
autosomal
trisomy
is
lower
in
Oriental
populations.
For
example,
the
incidence
of
mon-
golism
in
Orientals
living
in
the
Philippines4
is
no
different
from
that
of
other
racial
groups.
There
might
be
a
failure
in
identification
of
cases
owing
to
the
difficulty
in
diagnosis.
This
is
fre-
quently
the
case
in
mongolism
because
to
an
inexperienced
observer
the
face
of
an
Oriental
mongol
is
not
too
different
from
that
of
a
normal
Oriental
baby.
There
are
enough
Japanese
and
Chinese
families
living
along
the
western
sea-
board
of
the
United
States
and
Canada
to
make
this
problem
a
significant
one
for
the
pediatri-
cian.
In
the
present
patient
there
was
a
lack
of
clinical
evidence
to
immediately
suggest
a
diag-
nosis
of
multiple-malformation
syndrome,
and
only
the
abnormal
hand
posture
and
dysplastic
ears
enabled
the
clinician
to
suspect
the
diag-
nosis.
It
was
the
digital
arches
which
strength-
ened
the
diagnostic
impression.
Uchida,
Patau
and
Smith5
have
shown
that
the
presence
of
six
or
more
arches
on
the
digits
of
the
hand
in
con-
junction
with
the
phenotype
is
highly
suggestive
of
the
trisomy
17-18
syndrome,
and
certainly
more
than
eight
arches
are
virtually
diagnostic.
The
frequency
of
digital
arches
among
the
Japa-
nese
is
extremely
low
and
is
in
fact
lower
than
in
most
Caucasian
populations.6
Dermatoglyphic
patterns
have
become
a
use-
ful
method
of
substantiating
the
clinical
diag-
nosis
in
the
autosomal
trisomic
syndromes
and
in
some
of
the
sex
chromosomal
abnormalities.
Ex-
amination
of
the
dermal
patterns
is
becoming
more
of
a
routine
tool7
than
a
research
one
and
in
many
instances
enables
a
definitive
diagnosis
to
be
made
immediately.
SUMMARY
A
case
of
the
trisonry
17-18
syndrome
is
reported
in
a
Japanese
baby.
Only
two
previous
reports
have
dealt
with
the
syndrome
in
this
population.
Derma-
toglyphic
study
enabled
a
definitive
diagnosis
to
be
made
before
the
chromosomal
analysis
was
carried
out.
REFERENCES
1.
SMITH,
D.
W.:
Pediat.
Clin.
N.
Amer.,
10:
389,
1963.
2.
NAKOGOME,
Y.,
KOMIYA,
K.
AND
ARIMA,
M.:
Paediat.
Univ.
Tokyo,
8:
48,
1963.
3.
MATSUDA,
H.
AND
TANAKA,
H.:
Tokushima
J.
Exp.
Med.,
10:
231,
1964.
4.
WAGNER,
H.
R.:
Amer.
J.
Dis.
Child.,
103:
706,
1962.
5.
UCHIDA,
I.
A.,
PATAU,
K.
AND
SMITH,
D.
W.:
Amer.
J.
Hum.
Genet.,
14:
345,
1962.
6.
CUMMINS,
H.
AND
MIDLO,
C.:
Finger
prints,
palms
and
soles;
an
introduction
to
dermatoglyphics,
P.
Blakiston's
Son
&
Co.,
Philadelphia,
1943.
7.
MILLER,
J.
R.
AND
GIROUX,
J.:
T.
Pediat.,
69:
302,
1966.