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)(:q11.1→q11.2:)
aCGH: p11.2→q12 57,313,842-66,709,997 MB		 midi
aCGH
psychomotor retardation, dwarphism with scoliosis  		{0} provided from 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)(:q11.1→q11.1:)
aCGH: no euchromatin detected		 cenM, subcenM
aCGH		 n.a. {0} provided from 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)(:p11.2→q12:)
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)(::p21.2→q10)*
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)(::p12.3→q10::)*
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}
06-
Uu-
3-1 		n.a./
prenatal		 AF n.a. 47,XX,+mar[57]/
46,XX[41]		 mar(6)(:p12.3→q13)
arr [GRCh37]
47.138118-74.152240
UPD 6 unlear of pat or mat
  SNP-aCGH IUGR, TOP
 {51} case 8