ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #3 -                                                 
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(3)mat UPD(3)pat UPD(3)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
03-
U-
1
see mult 2-1
03-
U-
2
see mult 2-2
03-
U-
3
see 03-CO-3
03-
U-
4
female/
prenatal
AF de novo 47,XX,+mar[100%] r(3) SKY amniocentesis due to AMA normal ultrasound in weeks 18 and 24 of gestation {19} case 4
03-
U-
5

n.a./
prenatal
AF de novo 47,+mar[63%]/
46[37%]
r(3)(::p10→q12::) midi see below {5} case D
AMA. The parents elected to terminate the pregnancy in week 18. No fetal abnormalities were found at autopsy.
03-
U-
6
see mult 2-14
03-
U-
7
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(3) wcp probes no info available {38} 1 case
03-
U-
8
see 03-Uu-1
03-
U-
9
male/
prenatal
AF

n.a.

47,XY,+mar[100%]

min(3)(:p11.2~11.1→
q11.1~11.2:)

cenM, subcenM n.a. {0} provided from Portugal
03-
U-
10
male/
prenatal
CH

n.a.

47,XY,+mar[7]/
46,XY[18]

min(3)(:p11.21→
q11.2:)

midi, subcenM CVS due to NIPT positive for trisomy 18 {0} provided from Munich, 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
03-
Uc-
1
-
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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
03-
Ud-
1
male/
prenatal
cord blood n.a. 47,XY,+mar[3]/
46,XY[10]
der(3)(:p12.1q12.1:
:q21
q23:)
midi AMA, normal sonography {0} provided from Munich, Germany


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
03-
Uu-
1
female/
prenatal
CH, AF de novo 47,XX,+mar[100%] min(3)(:p12.2q10:)*
+3 in short term culture; mat UPD 3
BAC probes, MLPA; UPD-test see below {42}
{45 case 1}
twin pregnancy; in chorion (short term culture) in twin 2 a trisomy 3 (100%) was detected; in long term culture in 100% of cells had sSMC; twin 2 significantly shorter than twin, IUGR 1; sSMC also found in amnion cells; selective fetocide was done, however, after 3 weeks death delivery of both twins
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