ChromosOmics - Database

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                                                  -  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1-1 to 1-118		 published + 6 own unpublished cases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}
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 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-
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-
p21.1/
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 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
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 by Dr. A. Polityko, Minsk, 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