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Small Supernumerary Marker Chromosomes (sSMC): A Guide for Human Geneticists and Clinicians 2011 [Kõva köide]

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  • Formaat: Hardback, 220 pages, kõrgus x laius: 235x155 mm, kaal: 530 g, XX, 220 p., 1 Hardback
  • Ilmumisaeg: 04-Nov-2011
  • Kirjastus: Springer-Verlag Berlin and Heidelberg GmbH & Co. K
  • ISBN-10: 3642207650
  • ISBN-13: 9783642207655
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Small Supernumerary Marker Chromosomes (sSMC): A Guide for Human Geneticists and Clinicians 2011Suurem pilt
  • Formaat: Hardback, 220 pages, kõrgus x laius: 235x155 mm, kaal: 530 g, XX, 220 p., 1 Hardback
  • Ilmumisaeg: 04-Nov-2011
  • Kirjastus: Springer-Verlag Berlin and Heidelberg GmbH & Co. K
  • ISBN-10: 3642207650
  • ISBN-13: 9783642207655
Teised raamatud teemal:
Püsilink: https://www.kriso.ee/db/9783642207655.html
Märksõnad:
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects.This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

With numerous case studies complementing the theoretical aspects of the subject, and focusing on genetic diagnostics as well as on prenatal and fertility-related genetic counseling, this book is the first of its kind and includes the latest research on sSMCs.
1 Introduction
1(16)
1.1 The Problem
2(2)
1.1.1 Definition of sSMC
2(1)
1.1.2 Nomenclature
3(1)
1.1.3 Shapes of sSMC
3(1)
1.2 Frequency of sSMC
4(3)
1.2.1 Normal Population
4(2)
1.2.2 Healthy Population with Fertility Problems
6(1)
1.2.3 Developmentally and Mentally Retarded Persons
7(1)
1.3 Chromosomal Origin of sSMC
7(3)
1.3.1 sSMC in Individuals with 47 Chromosomes
8(1)
1.3.2 sSMC in Individuals with 46 Chromosomes: Turner Syndrome Karyotype Cases
8(1)
1.3.3 Multiple sSMC
8(1)
1.3.4 Neocentric sSMC
8(2)
1.4 What Are the Effects of sSMC
10(7)
1.4.1 Gain of Copy Number
11(2)
1.4.2 Uniparental Disomy
13(1)
1.4.3 Mosaicism
14(3)
2 Inheritance of Small Supernumerary Marker Chromosomes
17(4)
2.1 De Novo and Familial sSMC
17(1)
2.2 B Chromosomes and sSMC
18(3)
3 Formation of Small Supernumerary Marker Chromosomes
21(10)
3.1 Inverted-Duplication-Shaped sSMC
21(2)
3.1.1 Centromeric Activity of Dicentric sSMC
22(1)
3.2 Centric Minute-Shaped sSMC
23(2)
3.3 Ring-Shaped sSMC
25(1)
3.4 Complex sSMC
26(1)
3.5 Mixtures of Different Shapes
27(1)
3.6 Multiple sSMC
27(1)
3.7 Breakpoint Characteristics of sSMC
28(3)
4 Small Supernumerary Marker Chromosomes in Genetic Diagnostics and Counseling
31(16)
4.1 sSMC Diagnostics
31(8)
4.1.1 First Steps: Banding Cytogenetics
31(2)
4.1.2 Molecular Cytogenetics
33(3)
4.1.3 Molecular Genetics
36(1)
4.1.4 How To Characterize an sSMC
37(2)
4.2 Personal Experiences of Patients Receiving the Diagnosis sSMC Prenatally
39(6)
4.2.1 Personal Experience 1
39(1)
4.2.2 Personal Experience 2
40(2)
4.2.3 Personal Experience 3
42(3)
4.2.4 Personal Experience 4
45(1)
4.3 sSMC in Genetic Counseling
45(2)
5 Small Supernumerary Marker Chromosomes Known To Be Correlated with Specific Syndromes
47(22)
5.1 Emanuel Syndrome
47(5)
5.1.1 Clinical Characteristics
48(1)
5.1.2 Cytogenetic Characteristics
48(1)
5.1.3 Patient Report
48(4)
5.2 Cat Eye Syndrome
52(7)
5.2.1 Clinical Characteristics
52(1)
5.2.2 Cytogenetic Characteristics
53(1)
5.2.3 Patient Reports
54(5)
5.3 Pallister-Killian Syndrome
59(2)
5.3.1 Clinical Characteristics
59(1)
5.3.2 Cytogenetic Characteristics
59(1)
5.3.3 Patient Report
60(1)
5.4 Isochromosome 18p Syndrome
61(4)
5.4.1 Clinical Characteristics
61(1)
5.4.2 Cytogenetic Characteristics
62(1)
5.4.3 Patient Report
62(3)
5.5 Turner Syndrome
65(4)
5.5.1 Clinical Characteristics
65(1)
5.5.2 Cytogenetic Characteristics
65(1)
5.5.3 Patient Report
66(3)
6 Centric Small Supernumerary Marker Chromosomes
69(82)
6.1 Chromosome 1
70(6)
6.1.1 Potentially Non-dose-sensitive Pericentric Region
70(1)
6.1.2 Clinical Signs
71(1)
6.1.3 Mosaicism
72(1)
6.1.4 Uniparental Disomy
72(1)
6.1.5 Case Report
72(4)
6.1.6 Chromosomes 1/5/19
76(1)
6.2 Chromosome 2
76(3)
6.2.1 Potentially Non-dose-sensitive Pericentric Region
76(1)
6.2.2 Clinical Signs
76(2)
6.2.3 Mosaicism
78(1)
6.2.4 Uniparental Disomy
78(1)
6.2.5 Case Report
78(1)
6.3 Chromosome 3
79(2)
6.3.1 Potentially Non-dose-sensitive Pericentric Region
79(1)
6.3.2 Clinical Signs
80(1)
6.3.3 Mosaicism
80(1)
6.3.4 Uniparental Disomy
81(1)
6.4 Chromosome 4
81(2)
6.4.1 Potentially Non-dose-sensitive Pericentric Region
81(1)
6.4.2 Clinical Signs
82(1)
6.4.3 Mosaicism
82(1)
6.4.4 Uniparental Disomy
83(1)
6.5 Chromosome 5
83(2)
6.5.1 Potentially Non-dose-sensitive Pericentric Region
83(1)
6.5.2 Clinical Signs
84(1)
6.5.3 Mosaicism
84(1)
6.5.4 Uniparental Disomy
85(1)
6.5.5 Chromosomes 1/5/19
85(1)
6.6 Chromosome 6
85(3)
6.6.1 Potentially Non-dose-sensitive Pericentric Region
85(1)
6.6.2 Clinical Signs
85(1)
6.6.3 Mosaicism
86(1)
6.6.4 Uniparental Disomy
87(1)
6.6.5 Case Report
87(1)
6.7 Chromosome 7
88(5)
6.7.1 Potentially Non-dose-sensitive Pericentric Region
88(1)
6.7.2 Clinical Signs
89(1)
6.7.3 Mosaicism
90(1)
6.7.4 Uniparental Disomy
90(1)
6.7.5 Case Report
90(3)
6.8 Chromosome 8
93(3)
6.8.1 Potentially Non-dose-sensitive Pericentric Region
93(1)
6.8.2 Clinical Signs
93(2)
6.8.3 Mosaicism
95(1)
6.8.4 Uniparental Disomy
95(1)
6.8.5 Case Report
95(1)
6.9 Chromosome 9
96(4)
6.9.1 Potentially Non-dose-sensitive Pericentric Region
96(1)
6.9.2 Clinical Signs
96(2)
6.9.3 Mosaicism
98(1)
6.9.4 Uniparental Disomy
98(1)
6.9.5 Case Report
98(2)
6.10 Chromosome 10
100(4)
6.10.1 Potentially Non-dose-sensitive Pericentric Region
100(1)
6.10.2 Clinical Signs
100(1)
6.10.3 Mosaicism
101(1)
6.10.4 Uniparental Disomy
101(1)
6.10.5 Case Report
101(3)
6.11 Chromosome 11
104(2)
6.11.1 Potentially Non-dose-sensitive Pericentric Region
104(1)
6.11.2 Clinical Signs
104(2)
6.11.3 Mosaicism
106(1)
6.11.4 Uniparental Disomy
106(1)
6.12 Chromosome 12
106(2)
6.12.1 Potentially Non-dose-sensitive Pericentric Region
106(1)
6.12.2 Clinical Signs
106(2)
6.12.3 Mosaicism
108(1)
6.12.4 Uniparental Disomy
108(1)
6.12.5 Case Report
108(1)
6.13 Chromosome 13
108(2)
6.13.1 Potentially Non-dose-Sensitive Pericentric Region
108(1)
6.13.2 Clinical Signs
109(1)
6.13.3 Mosaicism
109(1)
6.13.4 Uniparental Disomy
110(1)
6.13.5 Chromosomes 13/21
110(1)
6.14 Chromosome 14
110(5)
6.14.1 Potentially Non-dose-sensitive Pericentric Region
110(1)
6.14.2 Clinical Signs
110(1)
6.14.3 Mosaicism
111(1)
6.14.4 Uniparental Disomy
112(1)
6.14.5 Case Reports
112(2)
6.14.6 Chromosomes 14/22
114(1)
6.15 Chromosome 15
115(7)
6.15.1 Potentially Non-dose-sensitive Pericentric Region
115(1)
6.15.2 Clinical Signs
116(1)
6.15.3 Mosaicism
117(1)
6.15.4 Uniparental Disomy
117(1)
6.15.5 Case Reports
118(4)
6.16 Chromosome 16
122(4)
6.16.1 Potentially Non-dose-sensitive Pericentric Region
122(1)
6.16.2 Clinical Signs
122(1)
6.16.3 Mosaicism
123(1)
6.16.4 Uniparental Disomy
123(1)
6.16.5 Case Reports
123(3)
6.17 Chromosome 17
126(4)
6.17.1 Potentially Non-dose-sensitive Pericentric Region
126(1)
6.17.2 Clinical Signs
126(1)
6.17.3 Mosaicism
127(1)
6.17.4 Uniparental Disomy
128(1)
6.17.5 Case Report
128(2)
6.18 Chromosome 18
130(2)
6.18.1 Potentially Non-dose-sensitive Pericentric Region
130(1)
6.18.2 Clinical Signs
131(1)
6.18.3 Mosaicism
132(1)
6.18.4 Uniparental Disomy
132(1)
6.18.5 Case Report
132(1)
6.19 Chromosome 19
132(3)
6.19.1 Potentially Non-dose-sensitive Pericentric Region
132(1)
6.19.2 Clinical Signs
132(2)
6.19.3 Mosaicism
134(1)
6.19.4 Uniparental Disomy
134(1)
6.19.5 Case Report
134(1)
6.19.6 Chromosomes 1/5/19
135(1)
6.20 Chromosome 20
135(4)
6.20.1 Potentially Non-dose-sensitive Pericentric Region
135(1)
6.20.2 Clinical Signs
136(1)
6.20.3 Mosaicism
137(1)
6.20.4 Uniparental Disomy
137(1)
6.20.5 Case Report
137(2)
6.21 Chromosome 21
139(6)
6.21.1 Potentially Non-dose-sensitive Pericentric Region
139(1)
6.21.2 Clinical Signs
140(1)
6.21.3 Mosaicism
141(1)
6.21.4 Uniparental Disomy
141(1)
6.21.5 Case Reports
141(3)
6.21.6 Chromosomes 13/21
144(1)
6.22 Chromosome 22
145(2)
6.22.1 Potentially Non-dose-sensitive Pericentric Region
145(1)
6.22.2 Clinical Signs
145(1)
6.22.3 Mosaicism
146(1)
6.22.4 Uniparental Disomy
146(1)
6.22.5 Case Reports
146(1)
6.22.6 Chromosomes 14/22
146(1)
6.23 X Chromosome
147(3)
6.23.1 Potentially Non-dose-sensitive Pericentric Region
147(1)
6.23.2 Clinical Signs
147(1)
6.23.3 Mosaicism
148(1)
6.23.4 Uniparental Disomy
148(1)
6.23.5 Case Report
148(2)
6.24 Y Chromosome
150(1)
6.24.1 Case Report
150(1)
6.25 Centric sSMC of Unknown Origin
150(1)
7 Neocentric Small Supernumerary Marker Chromosomes by Chromosome
151(18)
7.1 Chromosome 1: Neocentrics
152(1)
7.1.1 Balanced Situation
153(1)
7.1.2 Unbalanced Situation
153(1)
7.2 Chromosome 2: Neocentrics
153(1)
7.2.1 Balanced Situation
153(1)
7.2.2 Unbalanced Situation
154(1)
7.3 Chromosome 3: Neocentrics
154(3)
7.3.1 Balanced Situation
154(1)
7.3.2 Unbalanced Situation
154(1)
7.3.3 Case Report
155(2)
7.4 Chromosome 4: Neocentrics
157(1)
7.5 Chromosome 5: Neocentrics
158(1)
7.6 Chromosome 6: Neocentrics
158(1)
7.6.1 Balanced Situation
158(1)
7.6.2 Unbalanced Situation
159(1)
7.7 Chromosome 7: Neocentrics
159(1)
7.8 Chromosome 8: Neocentrics
160(1)
7.9 Chromosome 9: Neocentrics
160(1)
7.9.1 Balanced Situation
160(1)
7.9.2 Unbalanced Situation
160(1)
7.10 Chromosome 10: Neocentrics
161(1)
7.10.1 Balanced Situation
161(1)
7.10.2 Unbalanced Situation
161(1)
7.11 Chromosome 11: Neocentrics
161(1)
7.11.1 Balanced Situation
162(1)
7.11.2 Unbalanced Situation
162(1)
7.12 Chromosome 12: Neocentrics
162(1)
7.13 Chromosome 13: Neocentrics
162(2)
7.13.1 Balanced Situation
163(1)
7.13.2 Unbalanced Situation
163(1)
7.14 Chromosome 14: Neocentrics
164(1)
7.15 Chromosome 15: Neocentrics
164(1)
7.15.1 Balanced Situation
164(1)
7.15.2 Unbalanced Situation
165(1)
7.16 Chromosome 16: Neocentrics
165(1)
7.17 Chromosome 17: Neocentrics
166(1)
7.18 Chromosome 18: Neocentrics
166(1)
7.19 Chromosome 19: Neocentrics
166(1)
7.20 Chromosome 20: Neocentrics
167(1)
7.21 Chromosome 21: Neocentrics
167(1)
7.22 Chromosome 22: Neocentrics
167(1)
7.23 X Chromosome: Neocentrics
167(1)
7.24 Y Chromosome: Neocentrics
168(1)
7.25 Neocentric sSMC of Unknown Origin
168(1)
8 Multiple Small Supernumerary Marker Chromosomes
169(6)
8.1 Case Reports
169(6)
9 Small Supernumerary Marker Chromosomes Additionally to Other Chromosomal Rearrangements
175(4)
9.1 Numerical Aberrations
175(1)
9.1.1 TS Karyotype
175(1)
9.1.2 Gain of Gonosomes
176(1)
9.1.3 Trisomy 21
176(1)
9.1.4 Other Autosomal Gain
176(1)
9.2 Structural Aberrations
176(2)
9.2.1 Microdeletions
176(1)
9.2.2 McClintock Mechanism
177(1)
9.2.3 Other Structural Chromosomal Rearrangements
177(1)
9.3 Molecular Aberrations
178(1)
10 Complex Small Supernumerary Marker Chromosomes
179(2)
11 Small Supernumerary Marker Chromosomes and Tumors
181(2)
Appendix: Patient Organizations in Connection with Small Supernumerary Marker Chromosomes
183(16)
A1 Rare Chromosome Disorder Support Groups
183(3)
A1.1 Unique: Rare Chromosome Disorder Support Group
183(1)
A1.2 Contact a Family: for Families with Disabled Children
184(1)
A1.3 LEONA: Verein fur Eltern chromosomal geschadigter Kinder e.V.
184(1)
A1.4 Valentin APAC
185(1)
A1.5 Unique Danmark
185(1)
A1.6 Chromosome Disorder Outreach
185(1)
A1.7 Asociatia Prader Willi din Romania
186(1)
A1.8 Living with Trisomy
186(1)
A1.9 National Organization for Rare Disorders
186(1)
A2 Chromosome-Specific Support Groups
186(13)
A2.1 Chromosome 7
187(1)
A2.2 Chromosome 9
188(1)
A2.3 Chromosome 11
188(1)
A2.4 Chromosome 12
189(1)
A2.5 Chromosome 14
190(1)
A2.6 Chromosome 15
190(4)
A2.7 Chromosome 16
194(1)
A2.8 Chromosome 17
194(1)
A2.9 Chromosome 18
195(1)
A2.10 Chromosome 20
196(1)
A2.11 Chromosome 21
197(1)
A2.12 Chromosome 22
197(1)
A2.13 X and Y Chromosomes
198(1)
Glossary
199(6)
Chromosomes and Nomenclature
199(1)
Alphabetic List of Terms
200(5)
References 205(12)
Index 217