This whole part is interactive - by clicking one reaches the corresponding single cases.


__________________________________________________


  The probably non-dosage sensitive pericentric region of each chromosome is given for all pages, where it is appropriate as
- schematic cytogenetic depiction
- schematic molecular-cytogenetic depiction

__________________________________________________

References

References of each sub-page may be provided separately.

__________________________________________________

Cases are characterized according to the following parameters
case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	eference

__________________________________________________

 The case numbers (case no.) are constructed as follows:
If all information is available for a case, it is numbered according to the sSMCs breakpoint in the short arm
of the corresponding chromosome starting from pter (= end of the short arm - see example 1). 
Exception: as all acrocentric chromosomes start always with the whole short arm for chrs. 13-15 and 21-22
the breakpoints in the long arm (q-arm) are relevant for case numbers;
here the starting point is the centromere (q10 - see example 2). 
In cases with neocentromeres the same system is applied - starting from p-arm. (see example 3).

example 1	chromosome - information if sSMC-carrier was clinically normal (= O) or with clinical signs (= W) - breakpoint (as described above)/ variant number - case number with this variant	01- O- p12/ 1-1
	Described is a clinically healthy carrier of an sSMC(1), with the breakpoint in 1p12; it is a variant called '1' (here: carrier of a centric minute shaped sSMC) and case 1 described
example 2	chromosome - information if sSMC-carrier was clinically normal (= O) or with clinical signs (= W) - breakpoint (as described above)/ variant number - case number with this variant	15- O- q11/ 2-2
	Described is a clinically healthy carrier of an sSMC(15) with the breakpoint in 15q11; it is a variant called '2' (carrier of[nbsp] two inverted duplicated shaped sSMC), as another variant was already described with the same breakpoint, and case 2 described for this condition
example 3	chromosome - information if sSMC-carrier was clinically normal (= O) or with clinical signs (= W) - breakpoint (as described above)/ variant number - case number with this variant	14- N- qt32.1/ 1-1
	Described is a clinically abnormal carrier of a neocentric sSMC(14) with the breakpoint in 14q32.1; it is a variant called '1', and case 1 described for this condition.

__________________________________________________

If not all relevant information for an sSMC carrier are available this enumeration system can not be applied:     
when the sSMC is not characterized in detail, but the clinical outcome is known,
the cases described in the literature are numbered consecutively (acc. to their inclusion in this data base)
as 'CO'-cases (no clinical symptoms present in sSMC carrier) or 'CW-cases' (clinical symptoms present in sSMC-carrier).

example 4	chromosome - special abbreviation - variant number	01- CW- 5
	Described is a carrier of a not in detailed characterized sSMC(1) = 01; he is not healthy = CW; it is the 5th case included in this page = 5

__________________________________________________

When the sSMC is characterized in detail or not, and the clinical outcome is not known,
 the case is summarized under the 'U-cases' = cases with unclear clinical correlation of the sSMC.
In this group also cases are summarized where apart from one specific sSMC a second sSMC
or another chromosomal aberration is present;
 here also the influence of the sSMC on the clinical phenotype cannot be determined.

example 5	chromosome - special abbreviation - variant number	02- U- 1
	Described is a carrier of a not in detailed characterized sSMC(2) = 02; the pregnancy was terminated and no clinical information on the carrier with the sSMC is available = U; it is the 1st such case included in this page = 1
example 6	chromosome - special abbreviation - variant number	03- U- 1
	is a carrier of a not in detailed characterized sSMC(3) = 03; moreover a second not characterized sSMC is present; thus, it is not clear where the described clinical symptoms come from = U; it is the 1st such case included in this page = 1

Finally, in case of some special conditions additional abbreviations were introduced on the corresponding sub-pages
e.g. for derivative chromosome 22 syndrome = der(22): 22-Wder-189 = derivative sSMC derived from chromosome 22;
with clinical symptoms and a der(22)-typical sSMC (Wder); case 189 included in this page  


__________________________________________________

Abbreviations and FISH-methods used are specified here:
Karyotype formulas are not always provided according to the
international standard system for cytogenetic nomenclature (ISCN) {11}

Abbreviations		FISH-and other Methods
AF	amniocytic fluid cells	acro-cenM	acrocentric chromosome specific multicolor-FISH {1}
CH	chorion biopsy cells	aCGH	array based comparative genomic hybridization {2}
DD DYS	developmental delay dysmorphism	acro M	M-FISH for acrocentric chromosomes {3}
m MR	months mental retardation	cenM	centromere specific multicolor FISH {4}
n.a.	not available	cep	centromeric probes
PBL	peripheral blood	CGH	comparative genomic hybridization {5}
PL	placenta	MCB	multicolor banding {6}
TOP	termination of pregnancy	M-FISH	multiplex-FISH using whole chromosome painting probes {7}
w	weeks	midi NGS	microdissection {8} Next Generation Sequencing
y	years	subcenM	subcentromere-specific multicolor-FISH {9}
*	karyotype interpretation according to results in paper	SKY	spectral karyotyping using whole chromosome painting probes {10}

__________________________________________________