| 000 -LEADER |
|---|
| fixed length control field |
02866nam a22004695i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
|---|
| control field |
OSt |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
|---|
| control field |
20140310150242.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
|---|
| fixed length control field |
cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
111102s2012 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| International Standard Book Number |
9783642207662 |
|
978-3-642-20766-2 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
|---|
| Classification number |
RB155-155.8 |
|
|---|
| Classification number |
QH431 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
|---|
| Classification number |
611.01816 |
| Edition number |
23 |
|
|---|
| Classification number |
599.935 |
| Edition number |
23 |
| 264 #1 - |
|---|
| -- |
Berlin, Heidelberg : |
| -- |
Springer Berlin Heidelberg : |
| -- |
Imprint: Springer, |
| -- |
2012. |
| 912 ## - |
|---|
| -- |
ZDB-2-SBL |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Liehr, Thomas. |
| Relator term |
author. |
| 245 10 - IMMEDIATE SOURCE OF ACQUISITION NOTE |
|---|
| Title |
Small Supernumerary Marker Chromosomes (sSMC) |
| Medium |
[electronic resource] : |
| Remainder of title |
A Guide for Human Geneticists and Clinicians / |
| Statement of responsibility, etc |
by Thomas Liehr. |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
XX, 220 p. |
| Other physical details |
online resource. |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
Introduction -- Inheritance of sSMC -- Formation of sSMC -- sSMC in genetic diagnostics and counseling -- sSMC known to be correlated with specific syndromes -- Centric sSMC -- Neocentric sSMC by chromosome -- Multiple sSMC -- sSMC additionally to other chromosomal rearrangements -- Complex sSMC -- sSMC and tumor -- Appendix: Patient organizations in connection with sSMC.-Glossary. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc |
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. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Medicine. |
|
|---|
| Topical term or geographic name as entry element |
Human genetics. |
|
|---|
| Topical term or geographic name as entry element |
Medical laboratories. |
|
|---|
| Topical term or geographic name as entry element |
Reproductive Medicine. |
|
|---|
| Topical term or geographic name as entry element |
Biomedicine. |
|
|---|
| Topical term or geographic name as entry element |
Human Genetics. |
|
|---|
| Topical term or geographic name as entry element |
Reproductive Medicine. |
|
|---|
| Topical term or geographic name as entry element |
Laboratory Medicine. |
|
|---|
| Topical term or geographic name as entry element |
Cytogenetics. |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
|---|
| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
|---|
| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Display text |
Printed edition: |
| International Standard Book Number |
9783642207655 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Uniform Resource Identifier |
http://dx.doi.org/10.1007/978-3-642-20766-2 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
|
| Item type |
E-Book |
