Catalogue of unbalanced chromosome aberrations in man:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Berlin [u.a.]
de Gruyter
2001
|
| Ausgabe: | 2., rev. and expanded ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Literaturangaben |
| Beschreibung: | XVII, 966 S. Ill., graph. Darst. |
| ISBN: | 3110116073 |
Internformat
MARC
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| 100 | 1 | |a Schinzel, Albert |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Catalogue of unbalanced chromosome aberrations in man |c Albert Schinzel |
| 250 | |a 2., rev. and expanded ed. | ||
| 264 | 1 | |a Berlin [u.a.] |b de Gruyter |c 2001 | |
| 300 | |a XVII, 966 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Literaturangaben | ||
| 650 | 7 | |a Anormalidades cromossômicas |2 larpcal | |
| 650 | 7 | |a Citogenética |2 larpcal | |
| 650 | 7 | |a Doenças genéticas |2 larpcal | |
| 650 | 4 | |a Chromosome Aberrations |v Catalogs | |
| 650 | 4 | |a Human chromosome abnormalities |v Catalogs and collections | |
| 650 | 0 | 7 | |a Chromosomenaberration |0 (DE-588)4010163-0 |2 gnd |9 rswk-swf |
| 655 | 7 | |0 (DE-588)4522595-3 |a Fallstudiensammlung |2 gnd-content | |
| 655 | 7 | |0 (DE-588)4163417-2 |a Katalog |2 gnd-content | |
| 689 | 0 | 0 | |a Chromosomenaberration |0 (DE-588)4010163-0 |D s |
| 689 | 0 | |5 DE-604 | |
| 856 | 4 | 2 | |m DNB Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009315195&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 943 | 1 | |a oai:aleph.bib-bvb.de:BVB01-009315195 | |
Datensatz im Suchindex
| _version_ | 1807319779652927488 |
|---|---|
| adam_text |
CONTENTS
INTRODUCTION
.
XV
DETERMINATION
OF
BREAKPOINTS
.
XV
STRUCTURE
OF
THE
CATALOGUE
.
XV
GUIDELINE
FOR
THE
USE
OF
THE
CATALOGUE.
.
XVI
ABBREVIATIONS
USED
IN
THE
TEXT
.
XVII
NOTES
ON
CYTOGENETICS
TECHNIQUES
FOR
THE
DETECTION
AND
DEFINITION
OF
CHROMOSOME
ABERRATIONS
.
1
THE
BANDED
HUMAN
KARYOTYPE
.
1
NOMENCLATURE
.
1
APPLICATION
OF
TECHNIQUES
.
1
PROMETAPHASE
EXAMINATION
.
3
MOLECULAR
MARKER
ANALYSIS
.
3
FLUORESCENCE
IN
SITU
HYBRIDIZATION
(FISH)
.
3
CHROMOSOME
DISSECTION
AND
REVERSE
PAINTING
.
9
COMPARATIVE
GENOMIC
HYBRIDIZATION
(CGH).
.
10
SPECTRAL
KARYOTYPING
.
10
TYPES
OF
CHROMOSOME
ABERRATIONS
.
10
MOSAICISM
.
10
DOUBLE
ANEUPLOIDY;
TRIPLICATION
.
11
CHROMOSOME
REARRANGEMENTS
.
11
ROBERTSONIAN
TRANSLOCATIONS
.
11
RECIPROCAL
TRANSLOCATIONS
.
12
WHOLE-ARM
TRANSLOCATIONS
.
14
PERICENTRIC
INVERSIONS
.
14
PARACENTRIC
INVERSIONS
.
15
INSERTIONS
WITHIN
ONE
CHROMOSOME
.
15
INSERTIONS
BETWEEN
2
CHROMOSOMES
.
16
ISOCHROMOSOMES
.
16
CENTROMERE
FISSION
.
18
MEIOTIC
REARRANGEMENTS
BETWEEN
HOMOLOGUES
AND
CHROMATIDS
.
18
REARRANGEMENTS
BETWEEN
AN
X
AND
AN
AUTOSOME
.
18
UNIPARENTAL
DISOMY
(UPD)
.
19
INCREASED
RISK
FOR
NUNDISJUNCTION
IN
OFFSPRING
OF
CARRIERS
OF
BALANCED
REARRANGEMENTS?
(INTERCHROMOSOMAL
EFFECT)
.
20
"
BALANCED
"
REARRANGEMENTS
IN
PATIENTS
WITH
DYSMORPHIC
SYNDROMES
COMPATIBLE
WITH
AUTOSOMAL
CHROMOSOME
ABERRATIONS
.
20
CHROMOSOME
VARIANTS
AND
THEIR
USE
.
21
ORIGIN
AND
MECHANISM(S)
OF
FORMATION
OF
CHROMOSOME
ABERRATIONS
.
21
POPULATIONS
CYTOGENETICS
.
22
CYTOGENETICS
OF
SPONTANEOUS
ABORTIONS
.
24
NOTES
ON
CLINICAL
FINDINGS
IN
AUTOSOMAL
CHROMOSOME
ABERRATIONS
CHARACTERIZATION
OF
AUTOSOMAL
CHROMOSOME
ABERRATIONS
.
27
FAMILY
HISTORY
AND
PREGNANCY
.
27
GROWTH
.
27
PUBERTY
AND
FERTILITY
.
28
PATTERN
OF
DYSMORPHIC
FINDINGS
.
.
28
CONGENITAL
MALFORMATIONS
.
29
RADIOLOGIC
SKELETAL
ABNORMALITIES
.
30
MALFORMATION
COMPLEXES,
ASSOCIATIONS
AND
SYNDROMES
ASSOCIATED
WITH
AUTOSOMAL
CHROMOSOME
ABERRATIONS
.
30
CHROMOSOME
ABERRATIONS
AND
TUMOURS
.
31
CHROMOSOME
ABERRATIONS
IN
MONOVULAR
TWINS
.
32
MOTOR
AND
MENTAL
DEVELOPMENT:
BEHAVIOUR
.
32
KARYOTYPE-PHENOTYPE
CORRELATIONS
.
33
A
FEW
NOTES
ON
CLINICAL
FINDINGS
IN
SEX
CHROMOSOME
ABERRATIONS
.
35
CHROMOSOME
1
.
37
MONOSOMY
.
39
DELETIONS
.
39
RING
CHROMOSOME
.
54
DUPLICATIONS
.
54
TRISOMY
.
74
UNIPARENTAL
DISOMY
.
75
CHROMOSOME
2
.
77
DELETIONS
.
79
XII
CONTENTS
RING
CHROMOSOME
.
DUPLICATIONS
AND
TRIPLICATIONS
.
TRISOMY
.
UNIPARENTAL
DISOMY
.
CHROMOSOME
3
.
DELETIONS
.
RING
CHROMOSOME
.
DUPLICATIONS
AND
TRIPLICATIONS
.
TRISOMY
.
CHROMOSOME
4
.
DELETIONS
.
RING
CHROMOSOMES
.
DUPLICATIONS
.
TRISOMY
.
UNIPARENTAL
DISOMY
.
CHROMOSOME
5
.
DELETIONS
.
RING
CHROMOSOME
.
DUPLICATIONS
AND
TRIPLICATIONS
.
TRISOMY
.
UNIPARENTAL
DISOMY
.
CHROMOSOME
6
.
DELETIONS
.
RING
CHROMOSOME
.
DUPLICATIONS
.
UNIPARENTAL
DISOMY
.
CHROMOSOME
7
.
DELETIONS
.
RING
CHROMOSOME
.
DUPLICATIONS
AND
TRIPLICATIONS
.
TRISOMY
.
UNIPARENTAL
DISOMY
.
CHROMOSOME
8
.
NULLISOMY
.
DELETIONS
.
RING
CHROMOSOME
.
DUPLICATIONS
AND
TRIPLICATIONS
.
TRISOMY
.
UNIPARENTAL
DISOMY
.
CHROMOSOME
9
.
DELETIONS
.
91
91
113
114
115
117
128
129
153
155
157
191
193
219
219
221
223
241
241
259
260
261
263
273
274
290
293
295
320
321
335
337
341
343
343
359
359
383
393
395
397
RING
CHROMOSOME
.
411
DUPLICATIONS
AND
TRIPLICATIONS
.
412
TRISOMY
.
438
UNIPARENTAL
DISOMY
.
444
CHROMOSOME
10
.
445
DELETIONS
.
447
RING
CHROMOSOMES
.
461
DUPLICATIONS
AND
TRIPLICATIONS
.
462
TRISOMY
.
481
UNIPARENTAL
DISOMY
.
482
CHROMOSOME
11
.
483
DELETIONS
.
485
RING
CHROMOSOME
.
503
DUPLICATIONS
.
503
TRISOMY
.
515
UNIPARENTAL
DISOMY
.
515
CHROMOSOME
12
.
519
DELETIONS
.
521
RING
CHROMOSOME
.
525
DUPLICATIONS
AND
TRIPLICATIONS
.
525
TRISOMY
.
541
CHROMOSOME
13
.
543
DELETIONS
.
545
RING
CHROMOSOMES
.
566
DUPLICATIONS
AND
TRIPLICATIONS
.
570
TRISOMY
.
587
UNIPARENTAL
DISOMY
.
597
CHROMOSOME
14
.
599
DELETIONS
.
601
RING
CHROMOSOME
.
605
DUPLICATIONS
AND
TRIPLICATIONS
.
607
TRISOMY
.
615
UNIPARENTAL
DISOMY
.
618
CHROMOSOME
15
.
621
DELETIONS
.
623
RING
CHROMOSOMES
.
641
DUPLICATIONS
AND
TRIPLICATIONS
.
646
TRISOMY
.
663
UNIPARENTAL
DISOMY
.
665
CHROMOSOME
16
.
671
DELETIONS
.
673
CONTENTS
XIII
RING
CHROMOSOME
.
677
DUPLICATIONS
AND
TRIPLICATIONS
.
678
TRISOMY
.
687
UNIPARENTAL
DISOMY
.
688
CHROMOSOME
17
.
691
MONOSOMY
.
693
DELETIONS
.
693
RING
CHROMOSOME
.
702
DUPLICATIONS
.
703
TRISOMY
.
713
UNIPARENTAL
DISOMY
.
713
CHROMOSOME
18
.
715
MONOSOMY
.
717
DELETIONS
.
717
RING
CHROMOSOMES
.
741
DUPLICATIONS
AND
TRIPLICATIONS
.
747
TRISOMY
.
754
CHROMOSOME
19
.
781
DELETIONS
.
785
RING
CHROMOSOMES
.
785
DUPLICATIONS
.
787
TRISOMY
.
789
CHROMOSOME
20
.
791
MONOSOMY
.
793
DELETIONS
.
793
RING
CHROMOSOME
.
795
DUPLICATIONS
.
796
TRISOMY
.
802
UNIPARENTAL
DISOMY
.
803
CHROMOSOME
21
.
805
MONOSOMY
.
807
DELETIONS
.
809
RING
CHROMOSOME
.
814
DUPLICATIONS,
TRIPLICATIONS
AND
QUINTUPLICATIONS
.
818
TRISOMY
AND
TETRASOMY
.
823
UNIPARENTAL
DISOMY
.
840
CHROMOSOME
22
.
841
MONOSOMY
.
843
DELETIONS
.
843
RING
CHROMOSOME
.
860
DUPLICATIONS
AND
TRIPLICATIONS
.
864
TRISOMY
.
883
UNIPARENTAL
DISOMY
.
885
TRIPLOIDY
.
887
TETRAPLOIDY
.
899
CHROMOSOMES
X
AND
Y
.
903
ABERRATIONS
OF
THE
X
CHROMOSOME
IN
ABSENCE
OF
A
Y
.
905
DELETIONS
.
918
RING
CHROMOSOME
.
925
BALANCED
X;
AUTOSOMAL
TRANSLOCATIONS
IN
FEMALES
.
926
DUPLICATIONS
AND
TRIPLICATIONS
.
927
TRISOMY,
TETRASOMY,
PENTASOMY
.
933
UNIPARENTAL
DISOMY
AND
TRISOMY
.
936
ABERRATIONS
OF
THE
X
IN
KARYOTYPES
CONTAINING
ONE
NORMAL
Y
.
936
BALANCED
X-REARRANGEMENTS
IN
46,
XY
INDIVIDUALS
.
936
DELETIONS
OF
THE
X
CHROMOSOME
IN
46,
XY
INDIVIDUALS
.
937
ADDITIONAL
SMALL
X-DERIVED
MARKER
CHROMOSOMES
IN
XY
.
941
47,XXY/46XY
MOSAICISM
.
941
47,XXY
KLINEFELTER
SYNDROME
.
941
47,XXY
WITH
STRUCTURAL
ABERRATIONS
OF
ONE
X
.
945
ADDITIONAL
SMALL
X-DERIVED
MARKER
CHROMOSOMES
IN
XXY
.
945
48,XXXY
.
945
49,
XXXXY/48,XXXY
MOSAICISM
.
947
49,XXXXY
.
948
ABERRATIONS
OF
THE
Y
CHROMOSOME
.
950
DELETIONS
.
952
RING
CHROMOSOME
.
953
DUPLICATIONS
AND
REARRANGEMENTS
OF
THE
Y
IN
46,
XY
INDIVIDUALS
.
954
ABERRATIONS
OF
THE
X
AND
Y
CHROMOSOMES
.
962
48,XXYY
.
965 |
| any_adam_object | 1 |
| author | Schinzel, Albert |
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| discipline | Biologie Medizin |
| edition | 2., rev. and expanded ed. |
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| genre | (DE-588)4522595-3 Fallstudiensammlung gnd-content (DE-588)4163417-2 Katalog gnd-content |
| genre_facet | Fallstudiensammlung Katalog |
| id | DE-604.BV013634457 |
| illustrated | Illustrated |
| indexdate | 2024-08-14T00:14:14Z |
| institution | BVB |
| isbn | 3110116073 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-009315195 |
| oclc_num | 46364805 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR DE-20 DE-29 DE-19 DE-BY-UBM |
| owner_facet | DE-355 DE-BY-UBR DE-20 DE-29 DE-19 DE-BY-UBM |
| physical | XVII, 966 S. Ill., graph. Darst. |
| publishDate | 2001 |
| publishDateSearch | 2001 |
| publishDateSort | 2001 |
| publisher | de Gruyter |
| record_format | marc |
| spelling | Schinzel, Albert Verfasser aut Catalogue of unbalanced chromosome aberrations in man Albert Schinzel 2., rev. and expanded ed. Berlin [u.a.] de Gruyter 2001 XVII, 966 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Literaturangaben Anormalidades cromossômicas larpcal Citogenética larpcal Doenças genéticas larpcal Chromosome Aberrations Catalogs Human chromosome abnormalities Catalogs and collections Chromosomenaberration (DE-588)4010163-0 gnd rswk-swf (DE-588)4522595-3 Fallstudiensammlung gnd-content (DE-588)4163417-2 Katalog gnd-content Chromosomenaberration (DE-588)4010163-0 s DE-604 DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009315195&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Schinzel, Albert Catalogue of unbalanced chromosome aberrations in man Anormalidades cromossômicas larpcal Citogenética larpcal Doenças genéticas larpcal Chromosome Aberrations Catalogs Human chromosome abnormalities Catalogs and collections Chromosomenaberration (DE-588)4010163-0 gnd |
| subject_GND | (DE-588)4010163-0 (DE-588)4522595-3 (DE-588)4163417-2 |
| title | Catalogue of unbalanced chromosome aberrations in man |
| title_auth | Catalogue of unbalanced chromosome aberrations in man |
| title_exact_search | Catalogue of unbalanced chromosome aberrations in man |
| title_full | Catalogue of unbalanced chromosome aberrations in man Albert Schinzel |
| title_fullStr | Catalogue of unbalanced chromosome aberrations in man Albert Schinzel |
| title_full_unstemmed | Catalogue of unbalanced chromosome aberrations in man Albert Schinzel |
| title_short | Catalogue of unbalanced chromosome aberrations in man |
| title_sort | catalogue of unbalanced chromosome aberrations in man |
| topic | Anormalidades cromossômicas larpcal Citogenética larpcal Doenças genéticas larpcal Chromosome Aberrations Catalogs Human chromosome abnormalities Catalogs and collections Chromosomenaberration (DE-588)4010163-0 gnd |
| topic_facet | Anormalidades cromossômicas Citogenética Doenças genéticas Chromosome Aberrations Catalogs Human chromosome abnormalities Catalogs and collections Chromosomenaberration Fallstudiensammlung Katalog |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009315195&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT schinzelalbert catalogueofunbalancedchromosomeaberrationsinman |