ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #(1)/5/19 -                                                 
UNCLEAR
 
Cases without clinical findings
 Similar imbalances – no sSMC
Cases with clinical findings
 		Similar imbalances – no sSMC
Cases without clear clinical correlation
 Cases with discontinous sSMC
Cases with complex sSMC
 Cases with UPD and sSMC
Cases with neocentromeres
 Similar imbalances
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(1)mat UPD(1)pat UPD(1)mat or pat
UPD (uniparental disomy) cases: UPD(5)mat UPD(5)pat UPD(5)mat or pat
UPD (uniparental disomy) cases: UPD(19)mat UPD(19)pat UPD(19)mat or pat

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
05/19-
U-
1		 female/
7y		 PBL
cell line at ECACC DD1145		 de novo
47,XX,+mar[25]/
46,XX[9]		 mar(5 or 19) FISH with all available centromeric probes;
UPD-test		 clinically normal according to {1}; large head, frontal bossing, hypotonia, epicanthic folds, developmental delay, floppy according to ECACC
{1} case 19
{2} case 22
05/19-
U-
2		 female/
prenatal		 AF de novo 47,XX,+mar[80%]/
46,XX[20%]		 min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11) cenM; subcenM;
UPD-test
amniocentesis due to AMA; no further information available		 {0} provided from Germany
05/19-
U-
3		 female/
prenatal		 AF de novo 47,XX,+mar[?100%] min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11)
cenM; subcenM		 amniocentesis due to AMA;  no US abnormalities. TOP. No dysmorphism in autopsy {0} provided from USA
05/19-
U-
4 to
5		 n.a./
n.a.		 n.a. n.a. 47,+mar[?%] mar(1/5/19) centromeric probes n.a. {6} 2 cases
05/19-
U-
6		 moved to 19-U-17 {0} provided from Germany
05/19-
U-
7		 female/
prenatal		 AF n.a. 47,XX,+mar[27]/
46,XX[11]		 min(5)(:p11→q11.1:) or min(19)(:p11→q12:) cenM; subcenM amniocentesis due to AMA;  no further info available {0} provided from Germany

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
05/19-
Uc-
1-1 		-
 -
 -
 -
 -
 -
 -
 -

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
05/19-
Ud-
1-1 		-
 -
 -
 -
 -
 -
 -
 -

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
05/19-
Uu-
1-1 		-
 -
 -
 -
 -
 -
 -
 -