ChromosOmics - Database

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                                                  CHROMOSOME #9 -                                                 
UNCLEAR

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
09-
U-
2
see mult 2-7
09-
U-
3
n.a./
n.a.
PBL de novo n.a. if extra chromosome!! r(9)(::p23q12?::) acro M; M-FISH DYS; MR; 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
see +0Xm-09-1 {1} case 15
{27}
09-
U-
5a
see +0Xm-09-2 {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)(D9Z3+, D9Z5+, wcp9-) different FISH-probes AMA; 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
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
AMA - TOP; no further information available
{0} provided from 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. AMA, TOP {31} case 110
09-
U-
14
to 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
see +0Xf-09-2 {47} case 2

09-
U-
17
male/
prenatal
AF n.a.
47,XY,+mar[100%]
min(9)(:p12q12:) cenM;
subcenM
AMA, normal sonography - no further information {0} provided from Germany
09-
U-
18
male/
prenatal
AF n.a. 47,XY,+mar[67]/
46,XY[33]
min(9)(:p11.2q12:) cenM;
subcenM
AMA, normal sonography - no further information {0} provided from Israel
09-
U-
20
see 09-Uu-1
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
see 09-Uc-1
09-
U-
23
see 09-Uc-2
09-
U-
24
see PsMcCl-09-U-p22.2/1-1
09-
U-
25
male/
prenatal
AF de novo 47,XY,+mar[100%] min(9)(:p12→q12:) midi n.a. {0} provided from Germany
09-
U-
26
n.a./
prenatal
AF n.a. 47,XN,+mar[?100%] mar(9)(:p21.1→q1?2:) aCGH n.a. {136}
09-
U-
27
female/
prenatal
AF n.a. 47,XX,+mar[?100%] min(9)(pter→q1?2:) NGS n.a. {137} case 172990
09-
U-
28
male/
prenatal
AF n.a. 47,XY,+mar[?100%] min(9)(:p11→q1?2:) cenM;
subcenM
n.a.; twin pregnancy
{0} provided from Serbia
09-
U-
29
male/
prenatal
CH n.a. 47,XX,+mar[23]/
46,XX[21]
min(9)(:p11→q11:) cenM;
subcenM
n.a.
{0} provided from  Germany
09-
U-
30
female/
5y
PBL
n.a. 47,XX,+mar[4]/
46,XX[10]
der(9)(:p22.1→p22.1:
:p13.1→q12:)
arr[GRCh37] 9p22.1(19,126,476_19,428,721)x3,
9p13.1(no data)x3,
22q13.32q13.33(49,380,360_50,082,127)x3
aCGH
subcenM
22q dup syndrome
{0} provided from  Germany
09-
U-
31
n.a./
penatal
AF
n.a. 47,XN,+mar[70]/
46,XN[30]
seq[hg19] 9p12p21(28600000_38780000)x3 (40%)
data unclear- why nor cross-hyb in 9q?
region too large to be harmless; evtl. mosaic influence
aCGH
normal at age of 2 years {150} case 12
09-
U-
32
n.a./
prenatal
AF
n.a. 47,XN,+mar[26]/
46, XN[74]
arr[GRCh] 9p21.1p13.1(30498773_39411673)x2~3
data unclear- why nor cross-hyb in 9q?
region too large to be harmless; evtl. mosaic influence
aCGH
normal at age of 3.5 years
{150} case 15
09-
U-
33
male/
prenatal
chord blood
n.a. 47,XY,+mar[100%] acc. to aCGH and GTG
del(9)(q12)

aCGH
TOP
{153} case 23

Cases with complex sSMC (Uc)

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-
Uc-
1
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-
Uc-
2
male/
3 m
PBL mat balanced t(7;9) 47,XY,+mar[100%] der(9)t(7;9)
(p22;q22)
wcps DD, DYS {104}
09-
Uc-
3
male/
stillborn
PBL mat balanced t(6;9) 47,XY,der(6)t(6;9),
+mar[100%]
der(9)t(6;9)
(q27;q21.1)
none
DYS; 3h postnatal death, as the karyotype led to trisomy 9 {133}
09-
Uc-
4
male/
newborn
PBL mat balanced t(1;9) 47,XY,+der(9)t(1;9),(p36;q22)
[100%]
der(9)t(1;9),(p36;q22) none
DYS; DD {134}
09-
Uc-
5
female/
prenatal
AF mat balanced t(4;10;9)(q12;p11;q13) 47,XY,+der(9)t(9;10)(q13;p11)[100%] der(9)t(9;10)(q13;p11) none
DYS; TOP {135}
09-
Uc-
6
female/
prenatal
AF n.a. 47,XY,+der(?9)[100%] der(9)t(9;16)(q12;q11.2) subcen
n.a. {0} provided from Germany
09-
Uc-
7
male/
postnatal
PBL mat balanced t(9;16) 47,XY,+der(?9)[100%] der(9)t(9;16)(q13;p13) n.a.
DYS; DD {146}

Cases with discontinous sSMC (Ud)

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-
Ud-
1
 
male/
postnatal

PBL mat 47,XY,+mar[100%] r(9) highly complex rearranged 5 parts and 3 of them duplicated; no karyotype provided aCGH/ FISH schizoaffective disorder and/or bipolar disorder with psychotic feature in mother and son {122}
Based on the fact that "This marker chromosome contained genomic material from the small arm of chromosome 9 (9p24.1) with 1.8 Mb length involving 15 genes. Most of the genes were duplicated, however, the GLDC gene encoding glycine decarboxylase was triplicated" Ref 151 decided to create a mouse model for studying effects of triplication of the GLDC gene ...
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Cases with UPD (Uu)

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-
Uu-
1

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 MR and speech delay, but no obvious dysmorphism.
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