Small supernumerary marker chromosomes (sSMC): a guide for human geneticists and clinicians
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Berlin [u.a.]
Springer
2012
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| Schlagworte: | |
| Online-Zugang: | Inhaltstext Inhaltsverzeichnis |
| Beschreibung: | XX, 220 S. Ill., graph. Darst. |
| ISBN: | 3642207650 9783642207655 |
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| 245 | 1 | 0 | |a Small supernumerary marker chromosomes (sSMC) |b a guide for human geneticists and clinicians |c Thomas Liehr |
| 264 | 1 | |a Berlin [u.a.] |b Springer |c 2012 | |
| 300 | |a XX, 220 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
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Datensatz im Suchindex
| _version_ | 1805096489053061120 |
|---|---|
| adam_text |
IMAGE 1
CONTENTS
1 INTRODUCTION ; 1
1.1 THE PROBLEM 2
1.1.1 DEFINITION OF SSMC 2
1.1.2 NOMENCLATURE 3
1.1.3 SHAPES OF SSMC 3
1.2 FREQUENCY OF SSMC 4
.2.1 NORMAL POPULATION 4
.2.2 HEALTHY POPULATION WITH FERTILITY PROBLEMS 6
1.2.3 DEVELOPMENTALLY AND MENTALLY RETARDED PERSONS 7 1.3 CHROMOSOMAL
ORIGIN OF SSMC 7
1.3.1 SSMC IN INDIVIDUALS WITH 47 CHROMOSOMES 8
1.3.2 SSMC IN INDIVIDUALS WITH 46 CHROMOSOMES: TURNER SYNDROME KARYOTYPE
CASES 8
.3.3 MULTIPLESSMC 8
.3.4 NEOCENTRIC SSMC 8
1.4 WHAT ARE THE EFFECTS OF SSMC 10
.4.1 GAIN OF COPY NUMBER 11
.4.2 UNIPARENTAL DISOMY 13
.4.3 MOSAICISM 14
INHERITANCE OF SMALL SUPERNUMERARY MARKER CHROMOSOMES 17 2.1 DE NOVO AND
FAMILIAL SSMC 17
2.2 B CHROMOSOMES AND SSMC 18
FORMATION OF SMALL SUPERNUMERARY MARKER CHROMOSOMES 21 3.1
INVERTED-DUPLICATION-SHAPED SSMC 21
3.1.1 CENTROMERIC ACTIVITY OF DICENTRIC SSMC 22
3.2 CENTRIC MINUTE-SHAPED SSMC 23
3.3 RING-SHAPED SSMC 25
3.4 COMPLEX SSMC 26
BIBLIOGRAFISCHE INFORMATIONEN HTTP://D-NB.INFO/1010803964
DIGITALISIERT DURCH
IMAGE 2
CONTENTS
3.5 MIXTURES OF DIFFERENT SHAPES 27
3.6 MULTIPLE SSMC 27
3.7 BREAKPOINT CHARACTERISTICS OF SSMC 28
SMALL SUPERNUMERARY MARKER CHROMOSOMES IN GENETIC DIAGNOSTICS AND
COUNSELING 31
4.1 SSMC DIAGNOSTICS 31
4.1.1 FIRST STEPS: BANDING CYTOGENETICS 31
4.1.2 MOLECULAR CYTOGENETICS 33
4.1.3 MOLECULAR GENETICS 36
4.1.4 HOW TO CHARACTERIZE AN SSMC 37
4.2 PERSONAL EXPERIENCES OF PATIENTS RECEIVING THE DIAGNOSIS SSMC
PRENATALLY 39
4.2.1 PERSONAL EXPERIENCE 1 39
4.2.2 PERSONAL EXPERIENCE 2 40
4.2.3 PERSONAL EXPERIENCE 3 42
4.2.4 PERSONAL EXPERIENCE 4 45
4.3 SSMC IN GENETIC COUNSELING 45
SMALL SUPERNUMERARY MARKER CHROMOSOMES KNOWN TO BE CORRELATED WITH
SPECIFIC SYNDROMES 47
5.1 EMANUEL SYNDROME 47
5.1.1 CLINICAL CHARACTERISTICS 48
5.1.2 CYTOGENETIC CHARACTERISTICS 48
5.1.3 PATIENT REPORT 48
5.2 CAT EYE SYNDROME 52
5.2.1 CLINICAL CHARACTERISTICS 52
5.2.2 CYTOGENETIC CHARACTERISTICS 53
5.2.3 PATIENT REPORTS 54
5.3 PALLISTER-KILLIAN SYNDROME 59
5.3.1 CLINICAL CHARACTERISTICS 59
5.3.2 CYTOGENETIC CHARACTERISTICS 59
5.3.3 PATIENT REPORT 60
5.4 ISOCHROMOSOME 18P SYNDROME 61
5.4.1 CLINICAL CHARACTERISTICS 61
5.4.2 CYTOGENETIC CHARACTERISTICS 62
5.4.3 PATIENT REPORT 62
5.5 TURNER SYNDROME 65
5.5.1 CLINICAL CHARACTERISTICS 65
5.5.2 CYTOGENETIC CHARACTERISTICS 65
5.5.3 PATIENT REPORT 66
IMAGE 3
CONTENTS XIII
6 CENTRIC SMALL SUPERNUMERARY MARKER CHROMOSOMES 69 6. 1 CHROMOSOME 1 70
6.1.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 70 6.1.2
CLINICAL SIGNS 71
6.1.3 MOSAICISM 72
6.1.4 UNIPARENTAL DISOMY 72
6.1.5 CASE REPORT 72
6.1.6 CHROMOSOMES 1/5/19 76
6.2 CHROMOSOME 2 76
6.2.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 76 6.2.2
CLINICAL SIGNS 76
6.2.3 MOSAICISM 78
6.2.4 UNIPARENTAL DISOMY 78
6.2.5 CASE REPORT 78
6.3 CHROMOSOME 3 79
6.3.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 79 6.3.2
CLINICAL SIGNS 80
6.3.3 MOSAICISM 80
6.3.4 UNIPARENTAL DISOMY 81
6.4 CHROMOSOME 4 81
6.4.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 81 6.4.2
CLINICAL SIGNS 82
6.4.3 MOSAICISM 82
6.4.4 UNIPARENTAL DISOMY 83
6.5 CHROMOSOME 5 83
6.5.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 83 6.5.2
CLINICAL SIGNS 84
6.5.3 MOSAICISM 84
6.5.4 UNIPARENTAL DISOMY 85
6.5.5 CHROMOSOMES 1/5/19 85
6.6 CHROMOSOME 6 85
6.6.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 85 6.6.2
CLINICAL SIGNS 85
6.6.3 MOSAICISM 86
6.6.4 UNIPARENTAL DISOMY 87
6.6.5 CASEREPORT 87
6.7 CHROMOSOME 7 88
6.7.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 88 6.7.2
CLINICAL SIGNS 89
6.7.3 MOSAICISM 90
6.7.4 UNIPARENTAL DISOMY 90
6.7.5 CASEREPORT 90
IMAGE 4
CONTENTS
6.8 CHROMOSOME 8 93
6.8.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 93 6.8.2
CLINICAL SIGNS 93
6.8.3 MOSAICISM 95
6.8.4 UNIPARENTAL DISOMY 95
6.8.5 CASE REPORT 95
6.9 CHROMOSOME 9 96
6.9.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 96 6.9.2
CLINICAL SIGNS 96
6.9.3 MOSAICISM 98
6.9.4 UNIPARENTAL DISOMY 98
6.9.5 CASE REPORT 98
6.10 CHROMOSOME 10 100
6.10.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 100 6.10.2
CLINICAL SIGNS 100
6.10.3 MOSAICISM 101
6.10.4 UNIPARENTAL DISOMY 101
6.10.5 CASEREPORT 101
6.11 CHROMOSOME 11 104
6.11.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 104 6.11.2
CLINICAL SIGNS 104
6.11.3 MOSAICISM 106
6.11.4 UNIPARENTAL DISOMY 106
6.12 CHROMOSOME 12 106
6.12.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 106 6.12.2
CLINICAL SIGNS 106
6.12.3 MOSAICISM 108
6.12.4 UNIPARENTAL DISOMY 108
6.12.5 CASE REPORT 108
6.13 CHROMOSOME 13 108
6.13.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 108 6.13.2
CLINICAL SIGNS 109
6.13.3 MOSAICISM 109
6.13.4 UNIPARENTAL DISOMY 110
6.13.5 CHROMOSOMES 13/21 110
6.14 CHROMOSOME 14 110
6.14.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 110 6.14.2
CLINICAL SIGNS 110
6.14.3 MOSAICISM I LL
6.14.4 UNIPARENTAL DISOMY 112
6.14.5 CASE REPORTS 112
6.14.6 CHROMOSOMES 14/22 114
6.15 CHROMOSOME 15 115
6.15.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 115 6.15.2
CLINICAL SIGNS 116
6.15.3 MOSAICISM 117
IMAGE 5
CONTENTS
6.15.4 UNIPARENTAL DISOMY 117
6.15.5 CASE REPORTS 118
6.16 CHROMOSOME 16 122
6.16.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 122 6.16.2
CLINICAL SIGNS 122
6.16.3 MOSAICISM 123
6.16.4 UNIPARENTAL DISOMY 123
6.16.5 CASE REPORTS 123
6.17 CHROMOSOME 17 126
6.17.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 126 6.17.2
CLINICAL SIGNS 126
6.17.3 MOSAICISM 127
6.17.4 UNIPARENTAL DISOMY 128
6.17.5 CASEREPORT 128
6.18 CHROMOSOME 18 130
6.18.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 130 6.18.2
CLINICAL SIGNS 131
6.18.3 MOSAICISM 132
6.18.4 UNIPARENTAL DISOMY 132
6.18.5 CASEREPORT 132
6.19 CHROMOSOME 19 132
6.19.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 132 6.19.2
CLINICAL SIGNS 132
6.19.3 MOSAICISM 134
6.19.4 UNIPARENTAL DISOMY 134
6.19.5 CASE REPORT 134
6.19.6 CHROMOSOMES 1/5/19 135
6.20 CHROMOSOME20 135
6.20.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 135 6.20.2
CLINICAL SIGNS 136
6.20.3 MOSAICISM 137
6.20.4 UNIPARENTAL DISOMY 137
6.20.5 CASEREPORT 137
6.21 CHROMOSOME21 139
6.21.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 139 6.21.2
CLINICAL SIGNS 140
6.21.3 MOSAICISM 141
6.21.4 UNIPARENTAL DISOMY 141
6.21.5 CASEREPORTS 141
6.21.6 CHROMOSOMES 13/21 144
6.22 CHROMOSOME22 145
6.22.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 145 6.22.2
CLINICAL SIGNS 145
6.22.3 MOSAICISM 146
IMAGE 6
CONTENTS
6.22.4 UNIPARENTAL DISOMY 146
6.22.5 CASEREPORTS 146
6.22.6 CHROMOSOMES 14/22 146
6.23 X CHROMOSOME 147
6.23.1 POTENTIALLY NON-DOSE-SENSITIVE PERICENTRIC REGION 147 6.23.2
CLINICAL SIGNS 147
6.23.3 MOSAICISM 148
6.23.4 UNIPARENTAL DISOMY 148
6.23.5 CASEREPORT 148
6.24 Y CHROMOSOME 150
6.24.1 CASEREPORT 150
6.25 CENTRIC SSMC OF UNKNOWN ORIGIN 150
NEOCENTRIC SMALL SUPERNUMERARY MARKER CHROMOSOMES BY CHROMOSOME 151
7.1 CHROMOSOME 1: NEOCENTRICS 152
7.1.1 BALANCED SITUATION 153
7.1.2 UNBALANCED SITUATION 153
7.2 CHROMOSOME 2: NEOCENTRICS 153
7.2.1 BALANCED SITUATION 153
7.2.2 UNBALANCED SITUATION 154
7.3 CHROMOSOME 3: NEOCENTRICS 154
7.3.1 BALANCED SITUATION 154
7.3.2 UNBALANCED SITUATION 154
7.3.3 CASE REPORT 155
7.4 CHROMOSOME 4: NEOCENTRICS 157
7.5 CHROMOSOME 5: NEOCENTRICS 158
7.6 CHROMOSOME 6: NEOCENTRICS 158
7.6.1 BALANCED SITUATION 158
7.6.2 UNBALANCED SITUATION 159
7.7 CHROMOSOME 7: NEOCENTRICS 159
7.8 CHROMOSOME 8: NEOCENTRICS 160
7.9 CHROMOSOME 9: NEOCENTRICS 160
7.9.1 BALANCED SITUATION 160
7.9.2 UNBALANCED SITUATION 160
7.10 CHROMOSOME 10: NEOCENTRICS 161
7.10.1 BALANCED SITUATION 161
7.10.2 UNBALANCED SITUATION 161
7.11 CHROMOSOME 11 : NEOCENTRICS 161
7.11.1 BALANCED SITUATION 162
7.11.2 UNBALANCED SITUATION 162
7.12 CHROMOSOME 12: NEOCENTRICS 162
7.13 CHROMOSOME 13: NEOCENTRICS 162
7.13.1 BALANCED SITUATION 163
7.13.2 UNBALANCED SITUATION 163
7.14 CHROMOSOME 14: NEOCENTRICS 164
IMAGE 7
CONTENTS XVII
7.15 CHROMOSOME 15: NEOCENTRICS 164
7.15.1 BALANCED SITUATION 164
7.15.2 UNBALANCED SITUATION 165
7.16 CHROMOSOME 16: NEOCENTRICS 165
7.17 CHROMOSOME 17: NEOCENTRICS 166
7.18 CHROMOSOME 18: NEOCENTRICS 166
7.19 CHROMOSOME 19: NEOCENTRICS 166
7.20 CHROMOSOME 20: NEOCENTRICS 167
7.21 CHROMOSOME 21: NEOCENTRICS 167
7.22 CHROMOSOME 22: NEOCENTRICS 167
7.23 X CHROMOSOME: NEOCENTRICS 167
7.24 Y CHROMOSOME: NEOCENTRICS 168
7.25 NEOCENTRIC SSMC OF UNKNOWN ORIGIN 168
8 MULTIPLE SMALL SUPERNUMERARY MARKER CHROMOSOMES 169 8.1 CASEREPORTS
169
9 SMALL SUPERNUMERARY MARKER CHROMOSOMES ADDITIONALLY TO OTHER
CHROMOSOMAL REARRANGEMENTS 175
9.1 NUMERICAL ABERRATIONS 175
9.1.1 TSKARYOTYPE 175
9.1.2 GAIN OF GONOSOMES 176
9.1.3 TRISOMY21 176
9.1.4 OTHER AUTOSOMAL GAIN 176
9.2 STRUCTURAL ABERRATIONS 176
9.2.1 MICRODELETIONS 176
9.2.2 MCCLINTOCK MECHANISM 177
9.2.3 OTHER STRUCTURAL CHROMOSOMAL REARRANGEMENTS 177 9.3 MOLECULAR
ABERRATIONS 178
10 COMPLEX SMALL SUPERNUMERARY MARKER CHROMOSOMES 179
11 SMALL SUPERNUMERARY MARKER CHROMOSOMES AND TUMORS 181
APPENDIX: PATIENT ORGANIZATIONS IN CONNECTION WITH SMALL SUPERNUMERARY
MARKER CHROMOSOMES 183
AL RARE CHROMOSOME DISORDER SUPPORT GROUPS 183
AL.L UNIQUE: RARE CHROMOSOME DISORDER SUPPORT GROUP 183 A1.2 CONTACT A
FAMILY: FOR FAMILIES WITH DISABLED CHILDREN 184 A1.3 LEONA: VEREIN FUER
ELTERN CHROMOSOMAL GESCHAEDIGTER KINDER E.V 184
A1.4 VALENTIN APAC 185
A1.5 UNIQUE DANMARK 185
A 1.6 CHROMOSOME DISORDER OUTREACH 185
IMAGE 8
XVIII CONTENTS
A1.7 ASOCIAJIA PRADER WILLI DIN ROMANIA 186
A1.8 LIVING WITH TRISOMY 186
A 1.9 NATIONAL ORGANIZATION FOR RARE DISORDERS 186
A2 CHROMOSOME-SPECIFIC SUPPORT GROUPS 186
A2.1 CHROMOSOME 7 187
A2.2 CHROMOSOME 9 188
A2.3 CHROMOSOME 11 188
A2.4 CHROMOSOME 12 189
A2.5 CHROMOSOME 14 190
A2.6 CHROMOSOME 15 190
A2.7 CHROMOSOME 16 194
A2.8 CHROMOSOME 17 194
A2.9 CHROMOSOME 18 195
A2.10 CHROMOSOME 20 196
A2.LL CHROMOSOME 21 197
A2.12 CHROMOSOME 22 197
A2.13 X AND Y CHROMOSOMES 198
GLOSSARY 199
CHROMOSOMES AND NOMENCLATURE 199
ALPHABETIC LIST OF TERMS 200
REFERENCES 205
INDEX 217 |
| any_adam_object | 1 |
| author | Liehr, Thomas 1965- |
| author_GND | (DE-588)115661239 |
| author_facet | Liehr, Thomas 1965- |
| author_role | aut |
| author_sort | Liehr, Thomas 1965- |
| author_variant | t l tl |
| building | Verbundindex |
| bvnumber | BV039164969 |
| classification_rvk | WG 7000 |
| ctrlnum | (OCoLC)725062817 (DE-599)DNB1010803964 |
| dewey-full | 616.042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.042 |
| dewey-search | 616.042 |
| dewey-sort | 3616.042 |
| dewey-tens | 610 - Medicine and health |
| discipline | Biologie Medizin |
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| genre | (DE-588)4522595-3 Fallstudiensammlung gnd-content |
| genre_facet | Fallstudiensammlung |
| id | DE-604.BV039164969 |
| illustrated | Illustrated |
| indexdate | 2024-07-20T11:16:00Z |
| institution | BVB |
| isbn | 3642207650 9783642207655 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-024182351 |
| oclc_num | 725062817 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR |
| owner_facet | DE-355 DE-BY-UBR |
| physical | XX, 220 S. Ill., graph. Darst. |
| publishDate | 2012 |
| publishDateSearch | 2012 |
| publishDateSort | 2012 |
| publisher | Springer |
| record_format | marc |
| spelling | Liehr, Thomas 1965- Verfasser (DE-588)115661239 aut Small supernumerary marker chromosomes (sSMC) a guide for human geneticists and clinicians Thomas Liehr Berlin [u.a.] Springer 2012 XX, 220 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Markerchromosom (DE-588)4777645-6 gnd rswk-swf (DE-588)4522595-3 Fallstudiensammlung gnd-content Markerchromosom (DE-588)4777645-6 s Erbkrankheit (DE-588)4015106-2 s DE-604 Erscheint auch als Online-Ausgabe 978-3-642-20766-2 X:MVB text/html http://deposit.dnb.de/cgi-bin/dokserv?id=3708393&prov=M&dok_var=1&dok_ext=htm Inhaltstext DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024182351&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Liehr, Thomas 1965- Small supernumerary marker chromosomes (sSMC) a guide for human geneticists and clinicians Erbkrankheit (DE-588)4015106-2 gnd Markerchromosom (DE-588)4777645-6 gnd |
| subject_GND | (DE-588)4015106-2 (DE-588)4777645-6 (DE-588)4522595-3 |
| title | Small supernumerary marker chromosomes (sSMC) a guide for human geneticists and clinicians |
| title_auth | Small supernumerary marker chromosomes (sSMC) a guide for human geneticists and clinicians |
| title_exact_search | Small supernumerary marker chromosomes (sSMC) a guide for human geneticists and clinicians |
| title_full | Small supernumerary marker chromosomes (sSMC) a guide for human geneticists and clinicians Thomas Liehr |
| title_fullStr | Small supernumerary marker chromosomes (sSMC) a guide for human geneticists and clinicians Thomas Liehr |
| title_full_unstemmed | Small supernumerary marker chromosomes (sSMC) a guide for human geneticists and clinicians Thomas Liehr |
| title_short | Small supernumerary marker chromosomes (sSMC) |
| title_sort | small supernumerary marker chromosomes ssmc a guide for human geneticists and clinicians |
| title_sub | a guide for human geneticists and clinicians |
| topic | Erbkrankheit (DE-588)4015106-2 gnd Markerchromosom (DE-588)4777645-6 gnd |
| topic_facet | Erbkrankheit Markerchromosom Fallstudiensammlung |
| url | http://deposit.dnb.de/cgi-bin/dokserv?id=3708393&prov=M&dok_var=1&dok_ext=htm http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024182351&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT liehrthomas smallsupernumerarymarkerchromosomesssmcaguideforhumangeneticistsandclinicians |