tl_files/tiny_templates/Bilder TL/Header-sSMC.jpg

- sSMC -

CHROMOSOME 9

References

 

             
  Cases without
clinical findings
27 Cases with
clinical findings
16 symptoms  
  similar imbalances - no clinical findings similar imbalances with clinical findings  
    Cases with
isochromosome 9p
107    
  Cases with
unclear clinical correlation
Cases with
neocentromeres
6 tumor
1
 
  similar imbalances  
      DISCLAIMER      

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
mat
UPD 9
pat
UPD 9
unclear
 
           

 


the probably non-dosage sensitive pericentric region of chromosome 9


SCHEMATIC CYTOGENETIC DEPICTION

tl_files/tiny_templates/Bilder TL/sSMC/sSMC-9.jpg



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

 


Clinical symptoms of centromere-near proximal imbalances

 

chromosomal region

9p - proximal 9q - proximal
symptoms
autism (50 %) (0 %)
developmental delay (50 %) (0 %)
dysmorphic face (0 %) (100 %)
finger or toe/foot malformations (50 %) (0 %)
mental retardation (50 %) (0 %)
number of cases (marked with “°” below) 2
1
 

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, 101}  
  09-O-
pter/
1-2
moved to 09-W-iso/2-2 {97} case 1, {101}  
  09-O-
pter/
1-3
moved to 09-W-iso/2-3 {97} case 2, {101}  
  09-O-
pter/
1-4
moved to 09-W-iso/2-4 {61, 101}  
  09-O-
pter/
1-5
moved to 09-W-iso/2-5 {63} 1 case, {101}  
  09-O-
p13.1/
1-1
female/
27y
PBL n.a.
47,XX,+r[26]/
46,XX[4]
r(9)(::p13.1q21.12::)
array-CGH
normal female with recurrent miscarriages (4 miscarriages & 1 live birth)
{54} case 1
{109} case 9-1
 
  09-O-
p13.1/
2-1
female/
adult
PBL
(EKF-
cellbank)
n.a.
47,XX,+mar[27]/
46,XX[8]
del(9)(q11)
pcps, subtelomere 9pter and cep 9
normal female, infertile
{0} provided by Reprogenet, Spain  
  09-O-
p12/
1-1
male/
prenatal
AF de novo 47,XY,+mar[5]/
46,XY[15]
min(9)(:p12q10:)
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)(::p12q10::)
42.96-70.50 MB
r(9)(::p11.2
q10::)
midi;
cenM;
subcenM
array-CGH
see below {0}
{2} case 55
{45} case 15
{109} case 9-2
 
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)(::p12q11::)
aCGH: no euchromatin detected
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)(:p12q11:) 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)(:p12q11:) 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)(:p12q12:)[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
{109} case 9-3
 
  09-O-
p12/
3-2
male/
21y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[90%]/
46,XY[10%]
r(9)(::p12q12::)[8]/
min(9)(:p12
q12:)[5]/
r(9;9)(::p12
q12:
:p12
q12::)[2]
aCGH: no euchromatin detected
cenM, subcenM;
aCGH
 
normal man, but fertility problems {100} case Srm-2
{109} case 9-4
 
  09-O-
p12/
4-1
male/
52y
PBL
(EKF-
cellbank)
n.a 47,XY,+r[22%]/
46,XY[78%]
r(9)(::p12q12::) M-FISH; subcenM normal male; secondary sterility {0} provided by Dr. Pabst, Hannover, Germany  
  09-O-
p12/
4-2
male/
prenatal
AF
(EKF-
cellbank)
n.a 47,XY,+r[50%]/
46,XY[50%]
r(9)(::p12q12::)[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)(:p12q12:)
aCGH: no euchromatin detected
cenM, subcenM;
aCGH
normal male, fertility problems {109} case 9-5
 
  09-O-
p12/
4-4

female/
34y

PBL n.a. 47,XX,+mar[20%]/
46,XX[80%]
min(9)(:p12q12:) cenM, subcenM normal female, fertility problems; repeated abortions
{0} provided by Dr. Belitz, Berlin, Germany  
  09-O-
p12/
5-1
male/
prenatal
AF n.a 47,XY,+mar[53]/
46,XY[19]
min(9)(:p12q11:)[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/
5-2
male/
prenatal
AF de novo

48,XY,+mar,+r[4]/
47,XY,+mar[25]/
47,XY,+r[1]/
46,XY[6]

min(9)(:p11.1q1?2:)/
r(9)(p12q1?2)

aCGH shows due to crosshybridization p13.1 to q21.1
UPD(9)pat
aCGH; cep9; UPD test
advanced maternal age, normal sonography, normal child born {120}  
  09-O-
p12/
6-1
female/
5y
PBL
(EKF-
cellbank)
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?11.1q?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)(::p11.1q12::)[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-
p11.1/
3-1
female/
39y
PBL n.a. 47,XX,+mar1[15]/
47,XX,+mar2[11]/
46,XX[24]
mar1: min(9)(:p11.1q12:)
mar2: min(9)(:p11.1q12:
:q12p11.1:)

cenM, subcenM normal phenotype - infertility {0} provided by Dr. Oehl-
Jaschkowitz, Trier, Germany
 
  09-O-
p11.1/
3-2
male/
43y
PBL n.a. 47,XY,+mar[9]/
46,XY[6]
min(9)(:p11.1q12:)
cenM, subcenM normal phenotype - infertility {0} provided by Reprogenet, Spain
 
  09-O-
p11.1/
4-1
male/
43y
PBL n.a. 47,XY,+mar[67%]/
46,XY[33%]
min(9)(:p11.1q11:) cenM, subcenM normal phenotype - infertility {0} provided by BIOIATRIKI, Greece  
  09-O-
p10/
1-1
n.a./
prenatal
AF
(EKF-
cellbank)
maternal 47,+mar[105]/
46[6]
min(9)(:p10q13:)
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 (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}  
                     

 


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 1-100
published + 6 own unpublished cases
(severely) abnormal
including cases with i(9)(p10), i(9)(q12) up 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; 98 case 11; 102; 105; 106; 108; 110; 111; 115-119}  
  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, 55}  
  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) {97} case 1, {101}  
  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 {97} case 2, {101}  
  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, 101}  
  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, {101}
 
  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  
                     

 


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)(pterq21.1)
FISH: break between 71.64 and 79.67 MB

subcenM, MCB, PCL-FISH

see below {98} case 10  
Echographic indication hygroma colli, no further information available
09-W-
pter/
2-1
female/
19y
PBL n.a. 47,XX,+mar[100%] min(9)(pterq21.11)
hg19: 69.2Mb
aCGH slight MR, psychotic episodes {112}
  09-W-
pter/
2-1
female/
15m
PBL de novo 47,XX,+mar[69]/
46,XX[31]
min(9)(pterq11:)* 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/
2-2
n.a. n.a. n.a. 47,+mar min(9)(pterq11:)* n.a. trisomy 9p syndrome {113} case 4
09-W-
pter/
2-3
female/
prenatal
CVS n.a. 47,XX,+mar min(9)(pterq11:)* NIPT; sequencing trisomy 9p syndrome {115}
  09-W-
pter/
3-1
female/
10y
PBL de novo 47,XX,+mar[100%] min(9)(pterq11.2~12:)* 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
  09-W-
p23/
1-1 °
male/
prenatal
AF/
PBL
de novo amnion:
47,XY,+r[10]/
46,XY[19]

blood: 47,XY,+dr[2]/
47,XY,+r[24]/
46,XY[74]

mar(9)(:p23q11:)
aCGH:
12.76-39.13 MB
array-CGH normal sonography; advanced maternal age; at 12y: clinidactyly 5th finger; ADHD
{99}  
  09-W-
p21.1/
1-1
female/
postnatal?
PBL? n.a. 47,XX,+mar[27%]/
46,XX[73%]
mar(9)(:p21.1q11:) 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)(:p13.2q11:)
aCGH:
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
{101}
 
  09-W-
p11.1/
1-1 °
female/
9y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[20%]/
46,XX[80%]
min(9)(:p11.1q12:) 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-iso9p/
1-1
male/
newborn
PBL de novo 46,XY,trp(9)(pterp13::p13p22: :p22p13::p13q1ter) UPD-test hypotonia, facial dysmorrphies, seizures, severe developmental delay {93}  
                   


W-cases with unclear/insufficient characterization of the sSMC (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.?1q1?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  
                     

 

 


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)(::p23q12?::) 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)(:p13q10:) 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)(:p12q11.1:
:q11.1
p11.1:)
cenM;
subcenM
see below {1} case 15
{27}
 
Hypogonadism, gynecomastia, mental retardation; weakness of connective tissue
  09-
U-5a
male/
postnatal
PBL de novo 48,XXY,+mar[8]/
47,XXY[17]
mar(9) n.a. from abstracrt dysmorphic features, speech delay and mild mental retardation {103}  
  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)(:p11.1q11:
: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)(:p21.1q13:)* 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)(::p12q12::) cenM, subcenM abnormal sonography, 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)(:p11q11~12:) cenM;
subcenM
abnormal phenotype - not specified {47} case 2  
  09-
U-17
male/
prenatal
AF n.a. 47,XY,+mar[100%] min(9)(:p12q12:) 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)(:p11.2q12:) 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)(::p12q10::)
maternal UPD
midi; UPD-test see below {4} case L
{5} case D
{16} case 4
{101}
 
  Born at week 39 by cesarean section; birth weight: 2900g, length: 49cm; had moderate mental retardation and speech delay, but no obvious dysmorphism.  
  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 {103}  
  09-
U-23
male/
3 m
PBL mat balanced t(7;9) 47,XY,+mar[100%] der(9)t(7;9)
(p22;q22)
wcps developmental delay and dysmorphism {104} nbsp]
  09-
U-23
male/
3y
PBL de novo 47,XY,del(9)(p22.2),+mar[24]/
46,XY,del(9)(p22.2)
der(9)(:p22.2q11:) aCGH DD, dysmorphisms {107}  
  09-
U-24
male/
prenatal
AF de novo 47,XY,+mar[100%] min(9)(p12q12:) midi n.a. {0} provided by Dr. Weimer, Kiel, Germany
 
                     

 


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)(pterp21.1: :p21.1pter) 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)(pterp12: :p12pter) 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-
q22.33/
1-1
male/
prenatal
AF de novo 47,XY,+mar[9]
46,XY[91]
r(9)(::q22.33q31.3::)
hg19: 99.5-113.14 Mb
array-CGH normal sonography; TOP {0}  
  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)(qterq26::q26qter)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)(pterp23:
: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)(qterq32: :q32qter) 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}