SMALL SUPERNUMERARY MARKER CHROMOSOMES - sSMC 9 -

           References       

In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!

UPD (uniparental disomy) cases:           UPD 9   maternal   paternal   unclear

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the probably non-dosage sensitive pericentric region of chromosome 9

 

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SCHEMATIC CYTOGENETIC DEPICTION                    
  DISCLAIMER

 

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SCHEMATIC MOLECULARGENETIC DEPICTION  

acc. to UCSC Genome Browser on Human Mar. 2006 assembly [UCSC hg18, 2006]
and available BAC-data/ array-data from cases marked *** mentioned below [MB]

 critical region 37.88 --- 42.96 uncritical region   [46.70 centromere 70.00]   uncritical region 70.50 --- ? critical region

Below adapted for UCSC hg19, 2009

 critical region 37.88 ---  42.96 uncritical region   [47.30 centromere 65.90]   uncritical region 71.40 --- ? critical region

 DISCLAIMER

 

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 Clinical symptoms of centromere-near proximal imbalances

 

 

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References

Cases without clinical findings (O)

 

	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	reference
	09- pter/ 1-1	moved to 09-W-iso/2-1							{33}
	09-O- pter/ 1-2	moved to 09-W-iso/2-2							{0} provided by Dr. Kunz, Berlin, Germany
	09-O- pter/ 1-3	moved to 09-W-iso/2-3							{0} provided by Dr. Petersen, Athens, Greece
	09-O- pter/ 1-4	moved to 09-W-iso/2-4							{61}
	09-O- pter/ 1-5	moved to 09-W-iso/2-5							{63} 1 case
	09-O- p13.1/ 1-1	female/ 27y	PBL	n.a	47,XX,+r[26]/ 46,XX[4]	r(9)(::p13.1→q21.12::)	array-CGH	normal female with recurrent miscarriages (4 miscarriages & 1 live birth)	{54} case 1
	09-O- p12/ 1-1	male/ prenatal	AF	de novo	47,XY,+mar[5]/ 46,XY[15]	min(9)(:p12→q10:) 44.39-?0.50 MB r(9)(::p11.2→q10::)	midi; array-CGH	see below	[0} {2} case 56
		no ultrasound abnormalities; child born without clinical symptoms; no symptoms at age of 5 years
	*** 09-O- p12/ 1-2 ***	female/ 28y	PBL	de novo	47,XX,+mar[15]/ 46,XX[5]	r(9)(::p12→q10::) 42.96-70.50 MB r(9)(::p11.2→q10::)	midi;  cenM; subcenM array-CGH	see below	{0} {2} case 55 {45} case 15
		healthy woman; however,  history of three abortions; one healthy daughter has the same marker in 50% of the blood cells
	09-O- p12/ 1-3	female/ prenatal	AF, PBL	n.a.	Amnion: 47,XX,+mar[9]/ 46,XX[26] Blood: 47,XX,+mar[30]/ 46,XX[10]	r(9)(::p12→q11::)	cenM; subcenM	advanced maternal age, twin pregnancy; second twin - male - without mar, normal at 2 years	{0} provided by Dr. Basaran, Turkey
	09-O- p12/ 2-1	male/ prenatal	AF	maternal (73% in mother)	47,XY,+mar[10]/ 46,XY[16]	min(9)(:p12→q11:)	midi	see below	{11} case 3
		Amniocentesis due to advanced maternal age. no data available on child, however, mother was normal.
	09-O- p12/ 2-2	male/ prenatal	AF	maternal (40% in mother)	47,XY,+mar[100%]	min(9)(:p12→q11:)	SKY; cep9; YAC 782D6	Amniocentesis due to ??; child normal at birth; mother was normal.	{23} case 8
	09-O- p12/ 3-1	female/ postnatal	PBL	de novo	47,XX,+mar[?%]/ 46,XX[?%]	min(9)(:p12→q12:)[1]/ min(9)(:p12→q12: :q12→p12:)[5]/ r(9)(::p12→q12::)[2]/ r(9)(::p12→q12: :p12→q12::)x2[1]	M-FISH; CGH, HR-CGH, subcenM	normal woman, but with repeated miscarriage	{32, 35} {45} case 16
	09-O- p12/ 3-2	male/ 21y	PBL (EKF- cellbank)	n.a.	47,XY,+mar[90%]/ 46,XY[10%]	r(9)(::p12→q12::)[8]/ min(9)(:p12→q12:)[5]/ r(9;9)(::p12→q12: :p12→q12::)[2]	cenM, subcenM	normal man, but fertility problems	{0} provided by Dr. Henn, Homburg, Germany
	09-O- p12/ 4-1	male/ 52y	PBL (EKF- cellbank)	n.a	47,XY,+r[22%]/ 46,XY[78%]	r(9)(::p12→q12::)	M-FISH; subcenM	normal male; secondary sterility	{0}provided by Dr. Pabst, Hannover, Germany
	09-O- p12/ 4-2	male/ prenatal	AF	n.a	47,XY,+r[50%]/ 46,XY[50%]	r(9)(::p12→q12::)[6]/ min(9)(:p12→q12:)[4]	cenM, subcenM; UPD-test	advanced maternal age, normal sonography, normal child born	{0}provided by Dr. Kozlowski, Düsseldorf, Germany
	09-O- p12/ 4-3	male/ 32y	PBL	n.a	47,XY,+mar[100%]	min(9)(:p12→q12:)	cenM, subcenM	normal male, fertility problems	{0}provided by Dr. Alves, Porto, Portugal
	09-O- p12/ 5-1	male/ prenatal	AF	n.a	47,XY,+mar[53]/ 46,XY[19]	min(9)(:p12→q11:)[7]/ min(9)(:p12→q12:)[4] acc. to array-CGH: 9p21.3 - q13; 23.78-68.15 MB	cenM; subcenM; UPD-test	enhanced nuchal translucency in early pregnancy, in week 32 normal in ultrasound, child normal at birth	{0}provided by Dr. Kosakiewicz, Nürnberg, Germany
	09-O- p12/ 6-1	female/ 5y	PBL	de novo	51,XX,+mar1,+mar2x4[1]/ 49,XX,+mar1x2,+mar3[1]/ 48,XX,+mar1,+mar2[9]/ 48,XX,+mar1,+mar3[5]/ 47,XX,+mar2[2]/ 47,XX,+mar3[1]/ 46,XX[1]	mar1 = min(9)(:p12→q10:) mar2 = min(9)(:p11.1→q12:) mar3 = r(9)(::p11.1→q12::)	cenM; subcenM; UPD-test	normal phenotype with dwarphism - possibly familial	{0}provided by Dr. Gillessen-Kaesbach, Lübeck, Germany
	09-O- p11.1/ 1-1	female/ prenatal	AF/PBL	de novo	47,XX,+mar[40%]/ 46,XX[60%]	r(9)(::p?11.1→q?13::)*	radioactive ISH; satellite III  probe for chr. 9	Amniocentesis due to advanced maternal age. child normal at age of 4.5 years.	{7} case 2
	09-O- p11.1/ 2-1	n.a./ prenatal	AF	de novo	47,+mar[20%]/ 46[80%]	r(9)(::p11.1→q12::)[19]/ r(9)(::p11.1→q12: :q12→p11.1::)	cenM, subcenM; UPD-test	Amniocentesis due to advanced maternal age. child normal at birth	{0}provided by Dr. Jenderny, Hamburg, Germany
	09-O- p10/ 1-1	n.a./ prenatal	AF	maternal	47,+mar[105]/ 46[6]	min(9)(:p10→q13:) FISH-data: RP11-430C15 (66.18 MB) on sSMC	cenM, subcenM, M-FISH	Amniocentesis due to advanced maternal age. mother normal with mos min(9)(:p10→q13:)/min(9)(:q13→p10::p10→q13:) in PBL: 47,XX,+mar[11]/46,XX[39] - in FISH 47,XX,+mar[9]/46,XX[216]	{0}provided by Dr. Volleth, Magdeburg, Germany

 

O-Cases with similar imbalances NOT caused by sSMC (O-IMB)

 

	case no.	gender/ age at diagnosis	studied  material	de novo/  inherited	GTG-banding result and FISH result incl. grade of mosaicism	test methods	clinical symptoms	reference
	09-O- IMB- p13.1/ 1-1	female/ adult	PBL	n.a.	46,XX,dup(9)(p13.1p11.2)	cep probes	normal pregnant women - also in unborn child and later born normal child	{43}
	09-O- IMB- p12/ 1-1	female/ prenatal	AF	maternal	46,XX,dup(9)(p11q12)	n.a.	detected in prenatal diagnosis, normal child born, mother normal as well	{50}
	09-O- IMB- p11/ 1-1	female/ adult	PBL	familial	46,XX,dup(9)(p11q13)	cep probes	detected in a mentally retarded women, sister with same variant normal	{40}
	09-O- IMB- p11/ 2-1	male/ adult	PBL	familial	46,XY,dup(9)(p11q12)	CGH	detected in a mentally retarded sons, father and grandfather with variant normal	{42}
	09-O- IMB- p11/ other variants	for similar variants in p1 and  q12 see {41; 44}						{41; 44}

O-cases with unclear/insufficient characterization of the sSMC itself (CO)

 

 

	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	reference
	09- CO- 1	female/ prenatal	AF/PBL cell line at ECACC DD1362	maternal	47,XX,+mar[80%]/ 46,XX[20%] (in mother in 70% of PBL)	min(9)	all available centromeric probes; UPD-test	normal at birth; mother normal at age of 38y	{3} case 8 {15} case 1
	09- CO- 2	female/ n.a.	AF	maternal mar in mosaic (grade not specified)	47,XX,+mar[100%]	mar(9)	FISH with cep probes	normal	{17}

 

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References

Cases with iso-chromosome 9p (W-iso)

 

	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	reference
	09-W- iso/ 1-1 to 1-74	published + 3 own unpublished cases (severely) abnormal including cases with i(9)(p10), i(9)(q12) upt to i(9)(q13) cases also include mosaicism and tissue-specific mosaicism							{10; 14; 29;30; 49; 53; 56; 58 case 11; 59 case 3; 61; 64, case 24; 67-74; 76; 78-88; 89 case 2;90-92; 93-94; 96 case F0713569}
	09-W- iso/ 2-1	male/ 37y	PBL, skin	de novo ? (father not available)	47,XY,+i(9)(p10)[4]/ 46,XY[16] in skin no mar present	i(9)(p10)	cep 9; subtel 9p	normal male, studied due to repeated abortions in partnership (no i(9) involved as far as results available)	{33}
	09-W- iso/ 2-2	female/ 20y	PBL/ buccal mucosa	n.a.	47,XX,+i(9)(p10)[100%] in buccal mucosa marker only in 65% of cells	i(9)(p10)	M-FISH; cep 9; subtel 9p	normal female, studied due previous pregnancy with inv(7)	{0} provided by Dr. Kunz, Berlin, Germany
	09-W- iso/ 2-3	female/ adult	PBL	n.a.	48,XXX,+mar[6]/ 47,XXX[6]/ 47,XX,+mar[1]/ 46,XX[2]	i(9)(p10)	cep 9; subtel9p	normal female, studied due problems to conceive	{0} provided by Dr. Petersen, Athens, Greece
	09-W- iso/ 2-4	female/ adult	PBL	n.a.	47,XX,+i(9)(p10)[?%]	i(9)(p10)	n.a.	normal female, detected due to an i(9p) in prenatal diagnostic	{61}
	09-W- iso/ 2-5	female/ adult	PBL	n.a.	47,XX,+i(9)(p10)[72]/46,XX[28]	i(9)(p10)	n.a.	normal female, detected due to fertility problems/ Premature Ovarian Failure	{63} 1 case
	09-W- iso/ 3-1	male/ n.a.	PBL	n.a.	47,XY,+i(9)(q13)[100%]	n.a.	n.a.	normal male, detected due to Klinefelter like phenotype; cryptorchism	{49/22}
	09-W- iso/ 4-1	male/ 10y	PBL/ buccal mucosa	n.a.	47,XY,+i(9)(p10)[6]/ 46,XY[94] in buccal mucosa: SMC in 5%	i(9)(p10)	wcp 9	normal male, detected due to Klinefelter like phenotype; concealed penis	{75}
	09-W- iso/ 4-2	male/ 4y	PBL/ salvia	n.a.	blood: 47,XY,+i(9)(p10)[50] salvia: SMC only in ~85% of the cells	i(9)(p10)	wcp 9, aCGH	almost normal male with genital abnormalities, too small for age; mild dysmorphic features	{77}
	09-W- iso/ 4-3	male/ 5y	PBL/ skin fibroblasts	n.a.	blood: 47,XY,+i(9)(p10)[6]/46,XY[14] skin: no SMC	i(9)(p10)	wcp 9	almost normal male with prenatal growth retardation; at 5 y: normal psychomotor development; hypopigmented skin (Blaschko lines), weight 25th centile, hiegtht 90th centile; slight dysmorphic signs	{89} case 1

 

W-Cases with imbalance simlar to iso-chromosome 9p (imb-iso9p) 

 

	case no.	gender/ age at diagnosis	studied  material	de novo/  inherited	GTG-banding result and FISH result incl. grade of mosaicism	test methods	clinical symptoms	reference
	09-W- IMB-iso9p/ 1-1	male/ newborn	PBL	de novo	46,XY,trp(9)(pter→p13::p13→p22: :p22→p13::p13→q1ter)	UPD-test	hypotonia, facial dysmorrphies, seizures, severe developmental delay	{93}

 

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References

Cases with clinical findings (W)

 

	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	reference
	09-W- pter/ 1-1	male/ prenatal	AF	de novo	47,XY,+mar(9p?)[100%]	min(9)(pter→q21.1) FISH: break between 71.64 and 79.67 MB	subcenM, MCB, PCl-FISH	see below	{0} provided by Dr. Joris Vermeesch, Leuven Belgium
		Echographic indication hygroma colli, no further information available
	09-W- pter/ 2-1	female/ 15m	PBL	de novo	47,XX,+mar[69]/ 46,XX[31]	min(9)(pter→q11:)*	array-CGH	see below	{57; 62}
		pregnancy, delivery and neonatal period normal; at 15m: seizures, developmental delay. At 17y: autism, severe mental retardation, seizures
	09-W- pter/ 3-1	female/ 10y	PBL	de novo	47,XX,+mar[100%]	min(9)(pter→q11.2~12:)*	cenM, subcenM	see below	{0} provided by Dr. Mulhatino, Rio de Janeiro, Brasil
		microcephaly, short neck, abnromal ears, micrognathia, brachymesophalangy of thumb and 5th finger, bilateral single palmar crease, lordism, short and broad feet, flat feet
	9-W- p21.1/ 1-1	female/ postnatal?	PBL?	n.a.	47,XX,+mar[27%]/ 46,XX[73%]	mar(9)(:p21.1→q11:)	array-CGH	abnormal	{55} case 23302
	*** 09-W- p13.2/ 1-1    ° ***	male/ 4y	PBL	de novo	47,XY,+mar[37]/ 46,XY[5]	min(9)(:p13.2→q11:) 37.88-39.28 MB	array-CGH	mental retardation and autistic behavior	{60} case P-5
	09-W- p12/ 1-1	moved to 09-U-20							{4} case L {5} case D {16} case 4
	09-W- p11.1/ 1-1  °	female/ 9y	PBL	n.a.	47,XX,+mar[20%]/ 46,XX[80%]	min(9)(:p11.1→q12:)	cenM, subcenM	dwarphism, suspicion Turner syndrome	{0} provided by Dr. T. Martin, Homburg/Saar, Germany

 

 

W-Cases with similar imbalances NOT caused by sSMC (W-IMB)

 

	case no.	gender/ age at diagnosis	studied  material	de novo/  inherited	GTG-banding result and FISH result incl. grade of mosaicism	test methods	clinical symptoms	reference
	09-W- IMB- q11/ 1-1	female/ newborn	PBL	de novo	46,XX,ins(9)(9;9)(?;q22q11)	n.a.	multiple anomalies and clubfeet	{51}
	09-W- IMB- q12/ 1-1	male/ 13y	PBL	maternal	46,XY,der(1)ins(1;9)(q11;q12q13)	n.a.	short stature, scaphocephaly, small penis, mental retarded	{39}

W-cases with unclear/insufficient characterization of the sSMC itself (CW)

 

	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	reference
	09- CW- 1	n.a./ n.a.	n.a.	de novo	n.a.	mar(9)	n.a.; UPD-test	mental retardation	{3} case 7
	09- CW- 2	male/ prenatal	AF	n.a.	48,XY,+mar,+mar[1]/ 47,XY,+mar[44]/ 46,XY[5]	min(9)(:p11.?1→q1?3:)	cenM	advanced maternal age, at 22 weeks, feet equinovarus	{0} provided by Dr. A. Polityko, Minsk, Belarus
	09- CW- 3	moved to 09-W-pter/2-1							{57; 62}
	09- CW- 4	male/ 1y	PBL	n.a.	47,XY,+r[44]/ 47,XY,+9[5]/ 46,XY[3]	r(9)	cep 9	A newborn with severe congenital diaphramatic hernia and many other congenital anomalies	{66}case 7
	09- CW- 5	male/ 1y	PBL	n.a.	47,XY,+mar[100%]	min(9)	SKY	DD	{96}case F0633932
	09- CW- 6	female/ 11y	PBL	n.a.	47,XX,+mar[100%]	min(9)	SKY	Velocardiofacial phenotype, NF1, congenital cataract, DD, abnormal aortic valve	{96}case F0716379

 

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References

Cases with unclear clinical correlation (U)

 

	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	reference
	09- U-1	see mult 2-6							{1} case 34
	09- U-2	see mult 2-3							{6}
	09- U-3	n.a./ n.a.	PBL	de novo	n.a. if extra chromosome!!	r(9)(::p23→q12?::)	acro M; M-FISH	Dysmorphic features; mental retardation; no speech development	{9} case 12
	09- U-4	female/ 1w	PBL	de novo	47,XX,+9[?]/ 47,XX,+mar[?]/ 46,XX[?]	min(9)(:p13→q10:)	radioactive ISH: specific probe for 9p13	see below	{12}
		decrease fetal activity from 6th month; birth weight: 1600g, length: 43cm; HC: ~30cm; Apgar score 10/10; dysmorphic features like narrow forehead, large and hooked nose, micrognathia, hypoplastic nipples, right lower limb hypotrophic and reduced in diameter; follow-up possible up to 3y.
	09- U-5	male/ 34y	PBL	de novo (?)	48,XXY,+mar[15]	dic(9)(:p12→q11.1: :q11.1→p11.1:)	cenM; subcenM	see below	{1} case 15 {27}
		Hypogonadism, gynecomastia, mental retardation; weakness of connective tissue
	09- U-6	n.a./ n.a.	n.a.	n.a.	n.a.	r(9)	n.a.	n.a.	{15}
	09- U-7	male/ prenatal	AF	maternal (34y old - mar once in 65%)	48,XY,+marx2[100%]	r(9) .ish (D9Z3+, D9Z5+, wcp9-)	different FISH-probes	Amniocentesis due to advanced maternal age; no additional info available	{13}
	09- U-8	n.a./ n.a.	n.a.	n.a.	47,+mar[?]	mar(9)	all centromeric probes	n.a.	{24} 1 case
	09- U-9	see mult 2-15							{26}
	09- U-10	female/ prenatal	AF	n.a.	47,XX,+mar[22]/ 46,XX[6]	dic(9)(:p11.1→q11: :q11→p11.1:)[10]/ dic(9)(:q11→p12: :p12→q11:)[4]/ dic(9)(:p11.1→q11: :q11→p12:)[2]/ r(9)(::p12→q11~12: :q11~12→p12::)[1]	cenM; subcenM	advanced maternal age - termination of pregnancy; no further information available	{0} provided by Dr. Hickmann (Düsseldorf, Germany)
	09- U-11	female/ postnatal	PBL	n.a.	47,XX,+9[4%]/ 47,XX,+mar[70%]/ 46,XX[26%]	min(9)(:p21.1→q13:)*	various FISH-probes as characterized in {28}	n.a.	{28}
	09- U-12	male/ prenatal	AF	de novo	47,XY,+mar[50%]/ 46,XY[50%]	r(9)(::p12→q12::)	cenM, subcenM	abnormal US, TOP, no autopsy	{30} case 6
	09- U-13	female/ prenatal	AF	de novo	47,XX,+mar1[11]/ 47,XX,+mar2[5]/ 46,XX[4]	mar(9),mar(9)	n.a.	Advanced maternal age; TOP	{31} case 110
	09- U-14 to 09- U-15	n.a./ prenatal	AF	n.a.	47,+mar[?%]	mar(9)	SKY	no info available	{36} 1 new case - second case i(9p)
	09-U-16	female/ 10y	PBL	de novo	48,XXX,+mar[6]/ 47,XXX[3]	min(9)(:p11→q11~12:)	cenM; subcenM	abnormal phenotype - not specified	{47} case 2
	09- U-17	male/ prenatal	AF	n.a.	47,XY,+mar[100%]	min(9)(:p12→q12:)	cenM; subcenM	advanced maternal age, , normal sonography - no further information	{0} provided by Dr. Altus, Magdeburg, Germany
	09- U-18	male/ prenatal	AF	n.a.	47,XY,+mar[67]/ 46,XY[33]	min(9)(:p11.2→q12:)	cenM; subcenM	advanced maternal age, , normal sonography - no further information	{0} provided by Dr. Zivi Borochowitz, Haifa, Israel
	09- U-20	female/ ?	PBL	de novo	47,XX,+mar[36%]/ 46,XX[64%]	r(9)(::p12→q10::) maternal UPD	midi; UPD-test	Born at week 39 by cesarean section; birth weight: 2900g, length: 49cm; had moderate mental retardation and speech delay, but no obvious dysmorphism.	{4} case L {5} case D {16} case 4
	09- U-21	n.a./ n.a.	n.a.	n.a.	47,+mar[?%]/ 47,+9[?%]	mar(9)	n.a; aCGH	n.a.	{65}
	09- U-22	female/ postnatal	PBL	mat balanced t(3;9)	47,XX,+mar[100%]	der(9)t(3;9)(p25;q21.1)	MCB	abnormal phenotype	{0} provided by Prof. Cynthia de Almeida, Montevideo, Uruguay

 

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References

Cases with neocentromeres (N)

 

	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	reference
	09-N- pt21.1/ 1-1	male/ 1w	PBL	de novo	47,XY,+mar[100%]	inv dup(9)(pter→p21.1: :p21.1→pter)	alpha-, beta-satellite satIII probes, telomeric probe, all wcp probes, YAC-probes (not specified)	mental retardation and/or developmental delay or structural anomalies detected at birth	{18} case 5; {21;22; 25, 34 - case 2; 38}
	09-N- pt12/ 1-1	male/ 1w	PBL	de novo	47,XY,del(9(p12), +mar[100%]	inv dup(9)(pter→p12: :p12→pter)	alpha-, beta-satellite satIII probes, telomeric probe, all wcp probes, YAC-probes (not specified)	mental retardation and/or developmental delay or structural anomalies detected at birth	{18} case 7 {19; 20; 21; 22; 25, 34 - case 1; 38}
	09-N- qt26/ 1-1	female/ 50y	abdominal wall metastasis of a lung sarcanoid carcinoma	de novo; acquired!	GTG and FISH result combined: 67~71<3n>,XX,der(Y)t(Y;14)(p11;q11),del(1)(q23),1der(?1)t(3;15;1;14(3?q;15q?;1?q;14q?),der(2)t(2;20)(p23;?),der(2)t(2;17)(q13;q11?),del(3)(q21),del(3)(q21), +i(3)(qter→q26::q26→qter)x2,del(6)(?q21),+der(6)t(6;17) (?;?),del(7)(q21),+der(8)t(8;21)(?;q21),der(9)t(9;3;13)(q12;?;q11),der(9)t(6;9)(q15?;q21),+i(9)(pter→p23: :p23→pter)x4~6,10,der(11)i?(11)(q10?),-13,der(14)t(14;15)(?;?),der(14)t(14;3;?)(?;?;?),15,der(13;15)(q10;q10),-16,der(17)t(9;17)(p11;q11),-18,19,der(19)t(2;19)(?;q?11),del(21)(q21),-22,der(22)t(17;22)(?;q11)[cp20].		M-FISH, various probes as listed in {29} array-CGH	see below	{29}
		A 50-year-old man presented with a history of cough, hemoptysis, and thoracic pain (regular smoker); cavitating tumor of the right upper lobe diagnosed ( T2 N0 M0). right upper lobectomy showed an excavated tumor 6x5x3 cm. The tumor cells positive for cytokeratin 7, not for cytokeratin 20. Sarcomatoid carcinoma of the lung of the pleomorphic carcinoma subtype was diagnosed. One month after surgery, the patient developed a subcutaneous metastasis on the right thigh (M1). Chemotherapy with cisplatin (100 mg/m2 on day 1) and vinorelbine (25 mg/m2 on days 1, 8, 15, and 22 of a 28-day cycle), but after three cycles the patient progressed with the development of multiple subcutaneous metastases. One of the abdominal wall metastases (M2) was resected for palliative intent 8 months after the initial diagnosis. After two additional lines of chemotherapy, the patient died of progressive disease 13 months after the initial diagnosis.
	09-N- q31/ 1-1	see McCl-09-N-q31/1-1							{37}
	09-N- qt32/ 1-1	female/ prenatal	AF	de novo	47,XX,+mar[50%]/ 46,XX[50%]	inv dup(9)(qter→q32: :q32→qter)	M-FISH MCB	holoprosencephaly; TOP	{0} provided by Dr. Junge, Dresden, Germany

 

 

 

N-Cases with similar imbalances NOT caused by sSMC (N-IMB)

 

	case no.	gender/ age at diagnosis	studied  material	de novo/  inherited	GTG-banding result and FISH result incl. grade of mosaicism	test methods	clinical symptoms	reference
	09-N- IMB- p24/ 1-1 to 1-3	3 cases with trisomy 9pter see also {48}						{46} 3 cases
	09-N- IMB- q34/ 1-1 to 1-2	see {52}						{52}