Chromosome abnormalities and genetic counseling:
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
New York [u.a.]
Oxford Univ. Press
1996
|
| Edition: | 2. ed. |
| Series: | Oxford monographs on medical genetics
29 |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XIII, 478 S. Ill., graph. Darst. |
| ISBN: | 0195106156 |
Staff View
MARC
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Record in the Search Index
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|---|---|
| adam_text | Contents
BASIC CONCEPTS
1. Elements of medical cytogenetics 3
2. The origins and consequences of chromosome pathology 19
3. Deriving and using a risk figure 49
PARENT WITH A CHROMOSOMAL ABNORMALITY
4. Autosomal reciprocal translocations 59
5. Sex chromosome translocations 95
6. Robertsonian translocations 115
7. Centromere fissions 133
8. Inversions 137
9. Insertions 159
10. Autosomal rings 177
11. Complex rearrangements 182
12. Parental sex chromosome aneuploidy 191
13. Parental autosomal aneuploidy 203
14. The fragile X syndromes 209
15. Variant chromosomes 228
NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD
16. Down syndrome, other full aneuploidies, and polyploidy 243
17. Structural rearrangements and uniparental disomy 259
18. The XY female, the XX male, and the true hermaphrodite 294
19. Chromosome instability syndromes 300
viii CONTENTS
REPRODUCTIVE FAILURE
20. Pregnancy loss and infertility 311
PRENATAL DIAGNOSIS
21. Parental age counseling and screening for fetal trisomy 325
22. Prenatal diagnostic procedures 336
23. Chromosome abnormalities detected at prenatal diagnosis 345
APPENDIXES
A. Ideograms of human chromosomes, and haploid autosomal
lengths 375
B. Cytogenetic abbreviations and nomenclature 381
C. Determining 95 percent confidence limits, and the standard error 385
References 387
Index 465
|
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| discipline | Biologie Medizin |
| edition | 2. ed. |
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| indexdate | 2024-07-09T18:10:30Z |
| institution | BVB |
| isbn | 0195106156 |
| language | English |
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| physical | XIII, 478 S. Ill., graph. Darst. |
| publishDate | 1996 |
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| publisher | Oxford Univ. Press |
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| series | Oxford monographs on medical genetics |
| series2 | Oxford monographs on medical genetics |
| spelling | Gardner, R. J. Verfasser aut Chromosome abnormalities and genetic counseling R. J. McKinlay Gardner ; Grant R. Sutherland 2. ed. New York [u.a.] Oxford Univ. Press 1996 XIII, 478 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Oxford monographs on medical genetics 29 Afwijkingen gtt Chromosomen gtt Conseil génétique Cytogénétique Genetica humana e medica larpcal Genetisch advies gtt Chromosome Aberrations Genetic Counseling Genetic counseling Human chromosome abnormalities Patients Counseling of Chromosomenaberration (DE-588)4010163-0 gnd rswk-swf Genetische Beratung (DE-588)4020129-6 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Chromosomenaberration (DE-588)4010163-0 s Genetische Beratung (DE-588)4020129-6 s DE-604 Sutherland, Grant R. Verfasser aut Oxford monographs on medical genetics 29 (DE-604)BV000008339 29 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007724204&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Gardner, R. J. Sutherland, Grant R. Chromosome abnormalities and genetic counseling Oxford monographs on medical genetics Afwijkingen gtt Chromosomen gtt Conseil génétique Cytogénétique Genetica humana e medica larpcal Genetisch advies gtt Chromosome Aberrations Genetic Counseling Genetic counseling Human chromosome abnormalities Patients Counseling of Chromosomenaberration (DE-588)4010163-0 gnd Genetische Beratung (DE-588)4020129-6 gnd |
| subject_GND | (DE-588)4010163-0 (DE-588)4020129-6 (DE-588)4143413-4 |
| title | Chromosome abnormalities and genetic counseling |
| title_auth | Chromosome abnormalities and genetic counseling |
| title_exact_search | Chromosome abnormalities and genetic counseling |
| title_full | Chromosome abnormalities and genetic counseling R. J. McKinlay Gardner ; Grant R. Sutherland |
| title_fullStr | Chromosome abnormalities and genetic counseling R. J. McKinlay Gardner ; Grant R. Sutherland |
| title_full_unstemmed | Chromosome abnormalities and genetic counseling R. J. McKinlay Gardner ; Grant R. Sutherland |
| title_short | Chromosome abnormalities and genetic counseling |
| title_sort | chromosome abnormalities and genetic counseling |
| topic | Afwijkingen gtt Chromosomen gtt Conseil génétique Cytogénétique Genetica humana e medica larpcal Genetisch advies gtt Chromosome Aberrations Genetic Counseling Genetic counseling Human chromosome abnormalities Patients Counseling of Chromosomenaberration (DE-588)4010163-0 gnd Genetische Beratung (DE-588)4020129-6 gnd |
| topic_facet | Afwijkingen Chromosomen Conseil génétique Cytogénétique Genetica humana e medica Genetisch advies Chromosome Aberrations Genetic Counseling Genetic counseling Human chromosome abnormalities Patients Counseling of Chromosomenaberration Genetische Beratung Aufsatzsammlung |
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