Chromosomal variation in man: a catalog of chromosomal variants and anomalies
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
New York u.a.
Wiley-Liss
1997
|
| Ausgabe: | 8. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | CIV, 1175 S. |
| ISBN: | 0471243329 |
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| 100 | 1 | |a Borgaonkar, Digamber S. |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Chromosomal variation in man |b a catalog of chromosomal variants and anomalies |c Digamber S. Borgaonkar |
| 250 | |a 8. ed. | ||
| 264 | 1 | |a New York u.a. |b Wiley-Liss |c 1997 | |
| 300 | |a CIV, 1175 S. | ||
| 336 | |b txt |2 rdacontent | ||
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| 338 | |b nc |2 rdacarrier | ||
| 650 | 2 | |a Aberrations chromosomiques | |
| 650 | 2 | |a Aberrations chromosomiques, maladies | |
| 650 | 4 | |a Chromosome Aberrations |v Indexes | |
| 650 | 4 | |a Human chromosome abnormalities |v Catalogs and collections | |
| 650 | 4 | |a Human chromosomes |v Catalogs and collections | |
| 650 | 0 | 7 | |a Chromosomenanomalie |0 (DE-588)4122099-7 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Chromosom |0 (DE-588)4010162-9 |2 gnd |9 rswk-swf |
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| 650 | 0 | 7 | |a Chromosomenaberration |0 (DE-588)4010163-0 |2 gnd |9 rswk-swf |
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Datensatz im Suchindex
| _version_ | 1804126318032322560 |
|---|---|
| adam_text | TABLE OF CONTENTS
Preface xiii
On the Use of the Catalog lix
Sources xciii
Acknowledgments xcv
Modified ISCN (19xx) Ideograms xcvii
Structural Variations and Anomalies 1
01 1
02 56
03 107
04 153
05 207
06 253
07 289
08 331
09 366
10 413
11 445
12 483
13 508
14 552
15 580
16 622
17 637
18 658
19 688
20 695
21 706
22 730
OX 754
OY 823
46.XX Male 853
46.XX or XY Female (Gonadal Agenesis) 856
46.XX or XY Female (Gonadal Dysgenesis) 857
46.XY Female 861
True Hermaphrodite 861
Moles X62
Chimera K64
Asynapsis Desynapsis 866
Numerical Anomalies 866
1 866
Table of Contents
2 867
3 868
4 869
5 870
6 870
7 870
8 872
9 876
10 880
11 881
12 881
13 883
14 889
15 891
16 893
17 897
18 897
19 909
20 909
21 911
22 933
Mar 937
X Chromosome 944
45,X 944
47,XXX 964
48,XXXX 968
49,XXXXX 969
47,XXY 970
48,XXXY 980
49,XXXXY 981
Y Chromosome 983
47,XYY 983
48,XYYY 988
49,XYYYY 988
Double Aneuploidy: Anomalies of More Than One Autosome 988
47,XX,+ 13/47,XX,+ 18 988
48,XX,+18,+Mar 988
48,+2,+9 989
48,+2,+ 16 989
48,+5,+8 989
48,+8,+ 14 989
48,+8,+20 989
48,+8,+21 989
48,+ ll,+ 13 989
48,+ 13,+ 18 989
48,+ 13,+20 989
Table of Contents
48,+ 13,+21 989
48,+ 16,+20 989
48,+ 16,+21 989
48,+ 17,+21 990
48,+ 18,+21 990
48,+20,+21 990
48,+21,+21 990
48,+21,+Mar 990
49,+2,+8,+l 1 990
49,+5,+ 16,+20 990
49,+6,+21,+22 990
49,+ 13,+20,+21 990
49,+ 18,+21,+22 990
52,+2,+7,+8,+12,+13,+20 990
Double Aneuploidy: Anomalies of an Autosome and a Sex Chromosome 990
45,X/45,XY, 21 990
45,X/46,X,+21/47,XY,+21 991
45,X/45,XX, 21 991
45,X/46,XY/47,XY,+21 991
45,X/47,XX,+ 12 991
45,X/47,XX,+ 18 991
45,X/47,XX,+21 991
45,X/47,XY,+8 991
45,X/47,XY,+ 13 991
45,X/47,XY,+ 18 992
46,X,+8 992
46,X,+20 992
46,X,+21 992
46,XX/47,XXX/47,XX,+8 993
47,XXY,+8 993
48,XXX,+7 993
48,XXX,+ 18 993
48,XXX,+21 993
48,XXY,+8 993
48,XXY,+ 13 993
48,XXY,+ 16 993
48,XXY,+ 18 994
48,XXY,+21 994
48,XYY,+ 13 994
48,XYY,+ 18 995
48,XYY,+21 995
49,XXX,+5,+ 13 995
49,XXXY,+ 18 995
49,XXXY,+21 995
45,X/46,XY/47,XYY/48,XYYY 995
45,X/47,XYY 995
Table of Contents
48,XXYY 996
49,XXXYY 998
49,XXYYY 998
49,XXYY,+8 998
48,XXYY,+ I8 998
Polyploidy 998
Triploidy 998
Tetraploidy 1006
71.XXXXY 1008
Polyploidy 1009
Chromosomal Breakage Syndromes 1009
Ataxia Telangiectasia 1009
Balkan Endemic Nephropathy 1011
Behcet s Syndrome 1011
Bloom Syndrome 1011
Chromosomal Breakage Syndromes 1013
Chromosome Instability Syndrome 1014
Cockayne Syndrome 1014
Dubowitz Syndrome 1014
Dyskeratosis Congenita 1014
Fanconi Anemia 1014
Hypomelanosis of Ito 1018
Incontinentia Pigmenti 1018
Itai Itai Disease 1019
Medullary Carcinoma of the Thyroid 1019
Multiple Endocrine Adenomatosis 1019
Multiple Sclerosis 1019
Nijmegen Syndrome 1019
Premature Centromere Division 1019
Roberts Syndrome 1020
Rothmund Thomson Syndrome 1022
Scleroderma 1022
Sezary Syndrome 1022
Shwachman Syndrome 1022
Tuberous Sclerosis 1022
Vacterl With Hydrocephalus 1023
Werner Syndrome 1023
Xeroderma Pigmentosum 1023
Index of Authors 025
Subject Index 57
LIST OF TABLES
Table I Number of Entries in the Catalog by Type of Band and Break Points . . xvii
Table II Polymorphic (or Variant) and Fragile Site Areas in the xviii
Human Genome
Table III Chromosome Arms Involved in Partial Aneuploidy Syndrome xix
Table IV Chromosomes Involved in Full Aneuploides xx
Table V Aberration Codes xxi
Table VI Numbers of Different Aberrations for Various xxiii
Human Chromosomes
Table VII Reports of Structural Aberrations, Polymorphisms, and Fragile xxiii
Sites in Successive Editions of the Catalog
Table VIII Reports of Chromosome Studies in Mendelian Disorders with xxvii
McKusick Catalog Numbers by MIM#s
Table IX Reports of Chromosome Studies in Mendelian Disorders with lx
McKusick Catalog Numbers by Chromosome Breakpoints
|
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| spelling | Borgaonkar, Digamber S. Verfasser aut Chromosomal variation in man a catalog of chromosomal variants and anomalies Digamber S. Borgaonkar 8. ed. New York u.a. Wiley-Liss 1997 CIV, 1175 S. txt rdacontent n rdamedia nc rdacarrier Aberrations chromosomiques Aberrations chromosomiques, maladies Chromosome Aberrations Indexes Human chromosome abnormalities Catalogs and collections Human chromosomes Catalogs and collections Chromosomenanomalie (DE-588)4122099-7 gnd rswk-swf Chromosom (DE-588)4010162-9 gnd rswk-swf Mensch (DE-588)4038639-9 gnd rswk-swf Chromosomenaberration (DE-588)4010163-0 gnd rswk-swf (DE-588)4163417-2 Katalog gnd-content (DE-588)4188171-0 Verzeichnis gnd-content Chromosomenanomalie (DE-588)4122099-7 s DE-604 Chromosomenaberration (DE-588)4010163-0 s Chromosom (DE-588)4010162-9 s Mensch (DE-588)4038639-9 s 1\p DE-604 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007946751&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Borgaonkar, Digamber S. Chromosomal variation in man a catalog of chromosomal variants and anomalies Aberrations chromosomiques Aberrations chromosomiques, maladies Chromosome Aberrations Indexes Human chromosome abnormalities Catalogs and collections Human chromosomes Catalogs and collections Chromosomenanomalie (DE-588)4122099-7 gnd Chromosom (DE-588)4010162-9 gnd Mensch (DE-588)4038639-9 gnd Chromosomenaberration (DE-588)4010163-0 gnd |
| subject_GND | (DE-588)4122099-7 (DE-588)4010162-9 (DE-588)4038639-9 (DE-588)4010163-0 (DE-588)4163417-2 (DE-588)4188171-0 |
| title | Chromosomal variation in man a catalog of chromosomal variants and anomalies |
| title_auth | Chromosomal variation in man a catalog of chromosomal variants and anomalies |
| title_exact_search | Chromosomal variation in man a catalog of chromosomal variants and anomalies |
| title_full | Chromosomal variation in man a catalog of chromosomal variants and anomalies Digamber S. Borgaonkar |
| title_fullStr | Chromosomal variation in man a catalog of chromosomal variants and anomalies Digamber S. Borgaonkar |
| title_full_unstemmed | Chromosomal variation in man a catalog of chromosomal variants and anomalies Digamber S. Borgaonkar |
| title_short | Chromosomal variation in man |
| title_sort | chromosomal variation in man a catalog of chromosomal variants and anomalies |
| title_sub | a catalog of chromosomal variants and anomalies |
| topic | Aberrations chromosomiques Aberrations chromosomiques, maladies Chromosome Aberrations Indexes Human chromosome abnormalities Catalogs and collections Human chromosomes Catalogs and collections Chromosomenanomalie (DE-588)4122099-7 gnd Chromosom (DE-588)4010162-9 gnd Mensch (DE-588)4038639-9 gnd Chromosomenaberration (DE-588)4010163-0 gnd |
| topic_facet | Aberrations chromosomiques Aberrations chromosomiques, maladies Chromosome Aberrations Indexes Human chromosome abnormalities Catalogs and collections Human chromosomes Catalogs and collections Chromosomenanomalie Chromosom Mensch Chromosomenaberration Katalog Verzeichnis |
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