ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #5 -                                                 
NORMAL


Cases without clinical
findings
 		Similar imbalances -
no sSMC
 		sSMC
not well characterized
Cases with clinical findings
Similar imbalances – no sSMC
  Cases with isochromosome 5p
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases (sSMC) with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER
In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!


UPD (uniparental disomy) cases: UPD(5)mat UPD(5)pat UPD(5)mat or pat

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
05-
O-
pter/
1-1		 male/
28y		 PBL n.a. 47,XY,+mar[3%]/
46,XY[97%]		 min(5)(pter→q11.1:) M-FISH, pcp 5p normal male, studied due to repeated abortions in partner {55}
{57} case 5-1
05-
O-
pter/
2-1		 see 05-W-iso/1-19
05-
O-
pter/
2-2		 see 05-W-iso/1-23
***
05-
O-
p13.2/
1-1
 		female/
adult		 PBL de novo 47,XX,+mar[100%] min(5)(:p13.2→q11.1:)
37.55-46.14 MB		 subcenM;
aCGH		 normal woman studied due to three neonatal deaths due to respiratory failure {36} case P-3, {56}
***
05-
O-
p13.2/
1-2		 female/
prenatal
AF		 de novo 47,XX,+mar[25]/
46,XX[25]		 see below cenM;
subcenM;
aCGH;
UPD-test		 AMA, normal child born; normal at 2 years {53} case Srm-1
min(5)(:p13.2→q11.2:)[5]/min(5)(:p13.2→q11.2::q11.2→p13.2:)[4]/r(5)(::p13.2→q11.2::)[8]/r(5)(::p13.2→q11.2::p13.2→q11.2::)[2] aCGH; 37.21-55.27 MB
05-
O-
p13.1/
1-1		 male/
30y		 PBL n.a. 47,XY,+mar[50%]/
46,XY[50%]		 min(5)(:p13.1→q11.1:)[5]/
r(5)(::p13.1→q11.1::)[3]/
r(5;5)(::p13.1→q11.1:
:p13.1→q11.1::)[2]
FISH-data: RP11-19F12 (41.24MB) on sSMC		 cenM;
subcenM		 repeated abortions in partner, otherwise normal male {57} case 5-2
05-
O-
p13.1/
1-2		 female/
prenatal		 AF
n.a.		 47,XX,+mar[7]/
46,XX[43]		 min(5)(:p13.1→q11.1:)
mat isoUPD 5 - mar pat derived		 cenM;
subcenM		 no sonographic signs; AMA, child born; no abnormalities reported; slight hip dislocation {0} provided from Germany
05-
O-
p13.1/
2-1		 female/
prenatal		 AF n.a. 47,XX,+mar[40]/
46,XX[60]		 min(5)(:p13.1→q11.2:) cenM;
subcenM		 AMA, normal child born; normal at 6 months {0} provided from Germany
05-
O-
p12/
1-1		 female/
38y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[100%] min(5)(:p12→q11.1:)
FISH-data: RP11-19F12 (41.24MB) on sSMC		 cenM;
subcenM		 sSMC detected in preparation to ICSI; otherwise normal woman {26} case 9
{57} case 5-3
05-
O-
p12/
2-1		 n.a./
prenatal		 AF de novo 48,+mar1,+mar2[88%]/
47,+mar1[12%]		 mar(5)(:p11.2→q11.1:)/
mar(5)(:p11.1→q11.2:)		 n.a., subcenM with 3 BACs, aCGH see below {20} case 10
At 15 months of age, patient appears normal with no dysmorphic features or DD (marker detected on amniocentesis for increased Down syndrome risk on serum screen).
***
05-
O-
p12/
2-2


 female/
adult		 PBL n.a. 47,XX,+mar[37]/
46,XX[23]		 mar(5)(:p12→q11.2:)
size (hg19):
 45.120001 or 45.132364 Mb and 56.000000 ro 55.967870 Mb
 CNV-seq and micro-seq
 Amniocentesis due to AMA; child born without any signs or symptoms {71} case 2
05-
O-
p12~11/
1-1		 male/
9y		 PBL n.a. 47,XY,+mar[7]/
46,XY[43]		 min(5)(:p12~11→q11.2:)
 cenM;
subcenM		 nomral apart from suspicion of Klinefelter syndrome {0} provided from Germany
05-
O-
p11/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[17]/
46,XX[63]		 min(5)(:p11→q11.2:) cenM;
MCB		 Amniocentesis due to AMA; child born without any signs or symptoms {1} case 11
05-
O-
p11/
1-2		 female/
adult		 PBL n.a. 47,XX,+mar[38]/
46,XX[15]		 min(5)(:p11→q11.2:) cenM
 normal male, infertility {0} provided from Spain
05-
O-
p11/
2-1		 female/
prenatal		 AF n.a. 47,XX,+mar[50%]
46,XX[50%]		 min(5)(:p11→q11.1:
:q11.1→p11:) or
min(5)(:q11.1→p11:
:p11→q11.1:) or
min(5)(:p11→q11.1:
:p11→q11.1:)		 cenM;
subcenM		 see below {0} provided from Austria
Amniocentesis due to AMA and 1 previous abortion; in week 23 no ultrasound abnormalities; in week 30: head circumference 25.5 cm, femur length 53mm, weight ~1136g; at birth normal: (41. week) APGAR 9/10/10; weight 2840g, length 49cm, head circumference 33cm
05-
O-
p11/
3-1		 female/
25y		 PBL
(EKF-
cellbank)
 de novo 47,XX,+mar[100%] min(5)(:p11→q11.1:) cenM;
subcenM		 normal female {0} provided from Germany
05-
O-
p11/
3-2		 male/
33y		 PBL de novo 47,XY,+mar[9]/
46,XY[22]		 min(5)(:p11→q11.1:) cenM;
subcenM		 normal male, infertility {57} case 5-4
05-
O-
p11/
3-3		 male/
40y		 PBL n.a. 47,XY,+mar[77]/
46,XY[18]		 min(5)(:p11→q11.1:) cenM;
subcenM		 normal male, infertility {57} case 5-5
05-
O-
p11/
3-4		 male/
adult		 PBL n.a. 47,XY,+mar[100%] min(5)(:p11→q11.1:) cenM;
subcenM		 normal male, same sSMC in his unborn child {0} provided from Portugal
05-
O-
p11/
3-5		 female/
prenatal		 AF de novo 47,XX,+mar[100%] min(5)(:p11→q11.1:) cenM;
subcenM		 AMA, normal sonography, normal child born; normal at 8 y of age {0}
05-
O-
p11/
3-6		 male/
prenatal		 AF de novo 47,XY,+mar[70%]/
46,XY[30%]		 min(5)(:p11→q11.1:) cenM;
subcenM		 AMA; normal child at 3m postnatal {0} provided from Greece
05-
O-
p11/
3-7		 male/
adult		 PBL n.a.
 47,XY,+mar[5]/
46,XY[56]
min(5)(:p11→q11.1:) cenM normal male, oligospermia
 {0} provided from Greece
05-
O-
p11/
3-8		 male/
34y		 PBL n.a.
 47,XY,+mar[100%]
min(5)(:p11→q11.1:) cenM;
subcenM		 normal male, infertile
 {0} provided from Germany
05-
O-
p11/
4-1		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] min(5)(:p11→q11.1~11.2:)
FISH-data: RP11-160F8 (53.52MB) on sSMC		 cenM;
subcenM;
UPD-test		 AMA - US normal, normal child born {0} provided from Israel
05-
O-
p11/
5-1		 see McCl-5-W-p11/1-1
05-
O-
p11/
6-1		 male/
45y		 PBL n.a. 47,XY,+mar[80%]/
46,XY[20%]		 min(5)(:p11→q11.1:)[34]/
min(5)(:p11→q11.1:
:p11→q11.1:)[9]		 cenM;
subcenM
normal male, infertility		 {57} case 5-6
05-
O-
p10/
1-1		 male/
prenatal		 CH n.a. 47,XY,+mar[?%]/
46,XY[?%]		 i(5)(:q11.1~11.2→p10:
:p10→q11.1~11.2:)
FISH-data: RP11-160F8 (53.52MB) on sSMC		 wcp-studies, subcenM see below {0} provided from Germany
sSMC detected due to AMA; originally twin pregnancy; normal ultrasound; at birth normal child - birth by sectio; weight: 3210g, length 48cm, OFC 35cm; APGAR 9/10/10,
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O-Cases with similar imbalances NOT caused by sSMC (O-IMB)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
05-
O-
IMB-
q11.1/
1-1 		female/
40y
PBL 		n.a. der(5)(pter→q11.2:
:q11.1→qter) 		subcenM normal female, dup found in unborn child {0} provided from Germany

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
05-
CO-
1 		male/
prenatal 		AF, CH, chord blood de novo 47,XY,+mar[60]/
46,XY[40]
in CH: 37.8% with sSMC
in blood: 33.7% with sSMC		 mar(5)(:p?15~13→q1?1:)* cep probes, wcp5
RX-FISH 		Amniocentesis due to AMA; child born without any signs or symptoms, normal at 2y {18} case 1
05-
CO-
2 		n.a./
prenatal 		AF paternal 47,+mar[50%]
46[50%] 		mar(5) cenM Amniocentesis due to AMA; no info on child; father normal {0}
05-
CO-
3
 		female/
31y 		PBL n.a. 47,XX,+mar[10%]/
46,XX[90%] 		mar(5) cenM normal, infertile {0} provided from  Germany