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Catalogue of Unbalanced Chromosome Aberrations in Man
Albert Schinzel
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eBook - PDF
Catalogue of Unbalanced Chromosome Aberrations in Man
Albert Schinzel
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Information
83
2
9
years
old.
Many
of
the
features
mentioned
above
are
also
consistently
found
in
the
"18p—
syndrome",
compli-
cating
the
correlation
of
the
phenotype
of
partial
dup-
lication
of
lq
and
deletion
of
the
other
chromosome.
Another
family
member
with
cebocephaly
died
early.
Var-
ying
degrees
of
arrhinencephaly
are
common
in
del(18p);
however,
cyclopia
and
cebocephaly
have
also
been
obser-
ved
in
patients
with
the
dup(l)
(q32-*qter)
.
*Liberfarb
R.M.,
Breg
W.R.,
Atkins
L.,
et
al.:
Multiple
congenital
anomalies/mental
retardation(MCA/MR)
syndrome
due
to
partial
lq
duplication
and
possible
18p
deletion:
A
study
of
four
individuals
in
two
families.
Am.J.Med.Genet.
4,27-37(1979).
dup(l)(q44+qter)
Kessel
E.,
Pfeiffer
R.A.,
Welling
P.:
Translocation
22/Y
familiale
et
trisomie
partielle
autosomique
chez
une
jeune
fille.
J.Genet.
Hum.
27,45-51(1979).