Catalogue of Unbalanced Chromosome Aberrations in Man
eBook - PDF

Catalogue of Unbalanced Chromosome Aberrations in Man

  1. 936 pages
  2. English
  3. PDF
  4. Available on iOS & Android
eBook - PDF

Catalogue of Unbalanced Chromosome Aberrations in Man

About this book

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Information

Publisher
De Gruyter
Year
2020
Print ISBN
9783112329030
eBook ISBN
9783112329047
Topic
Medicine
Subtopic
Genetics in Medicine
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

  1. Contents
  2. Foreword
  3. Acknowledgements
  4. Introduction
  5. Notes on Cytogenetics
  6. Notes on Clinical Findings in Autosomal Chromosome Aberrations
  7. A few Notes on Clinical Findings in Sex Chromosome Aberrations
  8. Human Gene Map
  9. Chromosome 1
  10. Chromosome 2
  11. Chromosome 3
  12. Chromosome 4
  13. Chromosome 5
  14. Chromosome 6
  15. Chromosome 7
  16. Chromosome 8
  17. Chromosome 9
  18. Chromosome 10
  19. Chromosome 11
  20. Chromosome 12
  21. Chromosome 13
  22. Chromosome 14
  23. Chromosome 15
  24. Chromosome 16
  25. Chromosome 17
  26. Chromosome 18
  27. Chromosome 19
  28. Chromosome 20
  29. Chromosome 21
  30. Chromosome 22
  31. TRIPLOIDY AND TRIPLOIDY MOSAICISM
  32. TETRAPLOIDY AND TETRAPLOIDY MOSAICISM
  33. CHROMOSOMES X AND Y
  34. ABERRATIONS OF THE X CHROMOSOME IN ABSENCE OF A Y
  35. Aberrations of the X in karyotypes containing one normal Y
  36. ABERRATIONS OF THE Y CHROMOSOME
  37. ABERRATIONS OF X AND Y CHROMOSOMES
  38. Index of Selected Malformations and Minor Anomalies
  39. Author Index

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