ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #6 -                                                 
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(6)mat UPD(6)pat UPD(6)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
06-
U-
1
see mult 2-3
06-
U-
2
see mult 2-4
06-
U-
3
see mult 2-5
06-
U-
4
see mult 2-10
06-
U-
5
male/
16y
PBL ?paternal?
mar in 5/105 cells
47,XY,der(6)(pter→q22.3::q22.3→ q16.1::q221.1→qter),+mar min(6)(:q11.1q11.2:)
aCGH: p11.2
q12 57,313,842-66,709,997 MB
midi
aCGH

psychomotor retardation, dwarphism with scoliosis 
{0} provided by Dr. A. Dufke,
Tübingen, Germany

06-
U-
6
see mult 2-19
06-
U-
7
female/
prenatal
AF n.a. 47,XX,+mar[35]/
46,XX[45]
min(6)(:q11.1q11.1:)
aCGH: no euchromatin detected
cenM, subcenM
aCGH
n.a. {0} provided by Dr. Mehnert, Neu-Ulm, Germany
06-
U-
8
see 06-Uu-1
06-
U-
9
female/
prenatal
AF n.a. 47,XX,+mar[19]/
46,XX[11]
mar(6)(:p11.2q12:)
aCGH: 57.58-65.72 MB
aCGH
abnormal biochemistry; TOP; no external abnromalities
{40} case 8
06-
U-
10
female/
prenatal
AF de novo 47,XX,+mar[?100%] min(6)(p21.1q11)
aCGH: 44.39-57.21
aCGH
AMA, n.a.
{42} case AF-12
06-
U-
11
female/
prenatal
AF de novo 47,XX,+mar[4]/
46,XX[11]
min(6) cep probes
M-FISH
n.a. {45} case 9

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
06-
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
06-
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
06-
Uu-
1-1

female/
1m
PBL
cell line at ECACC DD1261
de novo 47,XX,+r[37]/
46,XX[13]
r(6)(::p21.2q10)*
paternal UPD 6
all centromeric probes; wcp 6; midi; UPD-test see below {1} case 5
{2}
{9} case 5
IUGR in week 35; Birth by cesarean section in week 38; Birth weight 1,8kg, APGAR 6/8/-; protuberant tongue; slightly prominent clitoris and anteriorly placed anus, small umbilical hernia; transient neonatal diabetes; smiling at 6m, sitting at 7.5m, standing with support 1y; At 2y8m epicanthic folds, thicker upper lip and prominent cheeks;
06-
Uu-
2-1
female/
newborn
PBL de novo 47,XX,+r[50%]/
46,XX[50%]
r(6)(::p12.3q10)*
arr [GRCh37]
6p12.3p11.2 (47936475_58614061) x 2~3
paternal UPD 6
FISH, SNP-aCGH IUGR, macroglossia, initial developmental delay,  transient neonatal diabetes
mellitus followed by a congenital hyperinsulinism
{49}