000			02955nam a22004935i 4500
001			978-3-642-20766-2
003			DE-He213
005			20140220083257.0
007			cr nn 008mamaa
008			111102s2012 gw | s |||| 0|eng d
020			_a9783642207662 _9978-3-642-20766-2
024	7		_a10.1007/978-3-642-20766-2 _2doi
050		4	_aRB155-155.8
050		4	_aQH431
072		7	_aMFN _2bicssc
072		7	_aMED107000 _2bisacsh
082	0	4	_a611.01816 _223
082	0	4	_a599.935 _223
100	1		_aLiehr, Thomas. _eauthor.
245	1	0	_aSmall Supernumerary Marker Chromosomes (sSMC) _h[electronic resource] : _bA Guide for Human Geneticists and Clinicians / _cby Thomas Liehr.
264		1	_aBerlin, Heidelberg : _bSpringer Berlin Heidelberg : _bImprint: Springer, _c2012.
300			_aXX, 220 p. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_aIntroduction -- 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			_aHuman 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	_aMedicine.
650		0	_aHuman genetics.
650		0	_aMedical laboratories.
650		0	_aReproductive Medicine.
650	1	4	_aBiomedicine.
650	2	4	_aHuman Genetics.
650	2	4	_aReproductive Medicine.
650	2	4	_aLaboratory Medicine.
650	2	4	_aCytogenetics.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9783642207655
856	4	0	_uhttp://dx.doi.org/10.1007/978-3-642-20766-2
912			_aZDB-2-SBL
999			_c101954 _d101954