- 933 pages
- English
- PDF
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eBook - PDF
Catalogue of Unbalanced Chromosome Aberrations in Man
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Yes, you can access Catalogue of Unbalanced Chromosome Aberrations in Man by Albert Schinzel in PDF and/or ePUB format, as well as other popular books in Medicina & Genetica in medicina. We have over one million books available in our catalogue for you to explore.
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).
Table of contents
- Contents
- Foreword
- Acknowledgements
- Introduction
- Notes on Cytogenetics
- Notes on Clinical Findings in Autosomal Chromosome Aberrations
- A few Notes on Clinical Findings in Sex Chromosome Aberrations
- Human Gene Map
- Chromosome 1
- Chromosome 2
- Chromosome 3
- Chromosome 4
- Chromosome 5
- Chromosome 6
- Chromosome 7
- Chromosome 8
- Chromosome 9
- Chromosome 10
- Chromosome 11
- Chromosome 12
- Chromosome 13
- Chromosome 14
- Chromosome 15
- Chromosome 16
- Chromosome 17
- Chromosome 18
- Chromosome 19
- Chromosome 20
- Chromosome 21
- Chromosome 22
- TRIPLOIDY AND TRIPLOIDY MOSAICISM
- TETRAPLOIDY AND TETRAPLOIDY MOSAICISM
- CHROMOSOMES X AND Y
- ABERRATIONS OF THE X CHROMOSOME IN ABSENCE OF A Y
- Aberrations of the X in karyotypes containing one normal Y
- ABERRATIONS OF THE Y CHROMOSOME
- ABERRATIONS OF X AND Y CHROMOSOMES
- Index of Selected Malformations and Minor Anomalies
- Author Index