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)(::p23→q12?::) 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)(: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		 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)(:p11.1→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		 AMA - TOP; 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 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)(:p12→q12:) cenM;
subcenM		 AMA, 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		 AMA, normal sonography - no further information {0} provided by Dr. Zivi Borochowitz, Haifa, 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 by Dr. Weimer, Kiel, 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 Hamburg, 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 Hanau, 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 Essen, 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)(::p12→q10::)
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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