ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #9 -                                                 
ABNORMAL
Cases with isochromosome 9p (W-iso)

prenatal diagnosed iso(9p) cases are summarized in {128}

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1-1 to 1-122		 published + 6 own unpublished cases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		 {0; 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; 123-124; 125, case 4; 126-128; 130, case 27; 131; 138, case P9; 144; 145, 147-149; 152; 154; 156, case 68}; 157; 158, 159, case 7}
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; 129}
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; 129}
09-
 W-
iso/
2-3
see also
+0Xf-
09-
1
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; 129}
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; 129}
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; 129}
09-
 W-
iso/
2-6
(before 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; 129}
09-
W-
iso/
2-7
(before 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; 129}
09-
W-
iso/
2-8
(before 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 DYS {89} case 1, {129}
09-
W-
iso/
2-9
 male/
adult		 PBL/
skin fibroblasts/
sperm
 n.a. mos 47,XY,+i(9)(p10)/46,XY
different levels in different tissues
i(9)(p10) n.a.  normal male  moderate oligozoospermia
 {139}
09-
W-
iso/
2-10
 male/
41y		 PBL/
 		n.a. mos 47,XY,+i(9)(p10)/46,XY
different levels in different tissues
i(9)(p10) n.a.  normal male 
Skin lesions 		{143}
09-
W-
iso/
3-1
 female/
adult		 PBL
 n.a. mos 47,XX,+i(9)(q12)[24]/46,XX[9]
different levels in different tissues
i(9)(q12)
authors state break in 9q21.1 - but this is a known cross hyb. of 9p12
 n.a.  normal female; detceted by NIPT
 {142}
09-
W-
iso/
3-2
 female/
prenatal		 AF and PBL
 n.a. PBL: mos 47,XX,+i(9)(q12)[14]/46,XX[26]
different levels in different tissues and testes AF-cells
i(9)(q12)
 FISH  normal female; at 7m postnatal
 {155}
09-
 W-
iso/
4-1		 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; 129}

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 Echographic indication hygroma colli, no further information available {98} case 10
09-
W-
pter/
1-2		 female/
19y		 PBL n.a. 47,XX,+mar[100%] min(9)(pter→q21.11)
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)(pter→q11:)* aCGH pregnancy, delivery and neonatal period normal; at 15m: seizures, DD. At 17y: autism, severe MR, seizures {57; 62}
09-
W-
pter/
2-2		 n.a. n.a. n.a. 47,+mar min(9)(pter→q11:)* n.a. trisomy 9p syndrome {113} case 4
09-
W-
pter/
2-3		 female/
prenatal		 CVS n.a. 47,XX,+mar min(9)(pter→q11:)* NIPT; sequencing trisomy 9p syndrome {115}
09-
W-
pter/
2-4		 female/
2y		 PBL n.a. 47,XX,+mar min(9)(pter→q11:)* FISH trisomy 9p syndrome {121} case 181-13
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 from 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-
pter/
4-1		 female/
postnatal
 PBL de novo 47,XX,+mar min(9)(pter→q13::q13→q12:)* FISH trisomy 9p syndrome {132}
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)(:p23→q11:)
aCGH:
12.76-39.13 MB		 aCGH
normal sonography; AMA; at 12y: clinidactyly 5th finger; ADHD		 {99}
09-
W-
p21.2/
1-1
°°°
 male/
10y		 PBL
skin
 n.a. 47,XY,+mar/
46,XY
different mosaics in skin and blood
 min(9)(:p21.2→q11:)*
break in 9p [hg38] 25,816220
 aCGH seizures, congenital cardiomyopathy,
psychomotor DD, growth retardation, microcephaly, and plagiocephaly. DYS
cryptorchidism clinodactyly, pigmentary mosaicism
{159} case 6
09-
W-
p21.1/
1-1		 female/
postnatal?		 PBL? n.a. 47,XX,+mar[27%]/
46,XX[73%]		 mar(9)(:p21.1→q11:) aCGH 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:)
aCGH:
37.88-39.28 MB
as centromere is at ~47Mb and not 39.23 Mb, this data seems not that certain
 aCGH
cep 9
 MR and autistic behavior {60} case P-5
09-
W-
p12/
1-1		 see 09-U-20
09-
W-
p11.1/
1-1
°°°
 female/
9y		 PBL
(EKF-
cellbank)		 n.a.
47,XX,+mar[20%]/
46,XX[80%]		 min(9)(:p11.1→q12:) cenM, subcenM
dwarphism, suspicion Turner syndrome		 {0} provided from 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
grade of mosaicism
 		final result of the sSMC
 		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 dysmorphies, seizures, severe DD {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.?1→q1?3:) cenM AMA, at 22 weeks, feet equinovarus {0} provided from Belarus
09-
CW-
3 		see 09-W-pter/2-1
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