 |
 |
- CHROMOSOME 6 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
- DD = developmental delay (including intellectual disability) - growth retardation - microcephaly - DYS = dysmorphic facial features - also possible: hypotonia, micrognathia, central nervous system anomalies, cardiac defects, seizures |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 06- p2?5q2?7/ 1-1 |
female/ 6y |
PBL |
?dn |
46,XX,r(6)(p2?5q2?7) dynamic mosaicism:46,XX,r(6)[73]/45,XX,-6[13]/46,XX,dr(6)[13]/47,XX,r(6)x2[3] |
GTG |
growth retardation, otherwise normal |
{593}
|
|
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
genera clinical
symptoms |
Reference |
|
| RC/W- 06- p2?5q2?7/ 1-1 |
female/ 1y |
PBL, fibros
|
dn |
46,XX,r(6)(p2?5q2?7) |
solid staining |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{108; 625, case
6-1} |
|
| RC/W- 06- p2?5q2?7/ 1-2 |
male/ 1y |
PBL |
?dn |
46,XY,r(6)(p2?5q2?7) dynamic mosaicism: 46,XY,r(6)[150]/45,XY,-6[15]/r-var[9] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{109}
|
|
| RC/W- 06- p2?5q2?7/ 1-3 |
male/ newborn |
PBL
|
dn |
46,XY,r(6)(p2?5q2?7) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{110}
|
|
| RC/W- 06- p2?5q2?7/ 1-4 |
female/ 5y |
PBL |
?dn |
46,XX,r(6)(p2?5q2?7) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{111}
|
|
| RC/W- 06- p2?5q2?7/ 1-5 |
male/ 4.5y |
PBL |
?dn |
46,XY,r(6)(p2?5q2?7) dynamic mosaicism: 46,XY,r(6)(p25q26)[48]/46,XY[5] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{112}
|
|
| RC/W- 06- p2?5q2?7/ 1-6 |
male/ 7y |
PBL |
dn |
46,XY,r(6)(p2?5q2?7) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{113}
|
|
| RC/W- 06- p2?5q2?7/ 1-7 |
male/ 1.5y |
PBL |
?dn |
46,XY,r(6)(p2?5q2?7) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{114}
|
|
| RC/W- 06- p2?5q2?7/ 1-8 |
female/ 3y |
PBL |
?dn |
46,XX,r(6)(p2?5q2?7) 46,XX,r(6)[87]/45,XX,-6[13] and dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{115}
|
|
| RC/W- 06- p2?5q2?7/ 1-9 |
female/ newborn |
PBL |
dn |
46,XX,r(6)(p2?5q2?7) dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{116, case
1} |
|
| RC/W- 06- p2?5q2?7/ 1-10 |
female/ 6y |
PBL |
dn |
46,XX,r(6)(p2?5q2?7) dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{116, case
2} |
|
| RC/W- 06- p2?5q2?7/ 1-11 |
female/ 2m |
PBL |
dn |
46,XX,r(6)(p2?5q2?7) dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{116, case
3} |
|
| RC/W- 06- p2?5q2?7/ 1-12 |
male/ n.a. |
PBL |
?dn |
46,XY,r(6)(p2?5q2?7) dynamic mosaicism decline of RCs from 93 to 61% over 20 years |
solid staining |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{117; 137}
|
|
| RC/W- 06- p2?5q2?7/ 1-13 |
male/ 2y |
PBL |
?dn |
46,XY,r(6)(p2?5q2?7) dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{118, case 1}
|
|
| RC/W- 06- p2?5q2?7/ 1-14 |
female/ 1.25y |
PBL |
dn |
46,XX,r(6)(p2?5q2?7) dynamic mosaicism: 46,XX,r(6)[51]/45,XX,-6[49] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{121}
|
|
| RC/W- 06- p2?5q2?7/ 1-15 |
female/ 3y |
PBL |
?dn |
46,XX,r(6)(p2?5q2?7) dynamic mosaicism: 46,XX,r(6)/45,XX,-6 |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{122} |
|
| RC/W- 06- p2?5q2?7/ 1-16 |
female/ 2y |
PBL |
?dn |
46,XX,r(6)(p2?5q2?7) dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{123} |
|
| RC/W- 06- p2?5q2?7/ 1-17 |
male/ child |
PBL |
?dn |
46,XY,r(6)(p2?5q2?7) dynamic mosaicism: 47,XY,+r(6)[3]/46,XY,r(6)[40]/ 45,XY,-6[7] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{136} |
|
| RC/W- 06- p25q26/ 1-1 |
male/ 1y |
PBL |
dn |
46,XY,r(6)(p25q26) dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{116, case
4} |
|
| RC/W- 06- p25q27/ 1-1 |
female/ prenatal |
AF |
?dn |
46,XX,r(6)(p25q27) dynamic mosaicism: 46,XX,r(6)(p25q27)[0.38]/45,XX,-6[0.62] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{124} |
|
| RC/W- 06- p25q27/ 1-2 |
male/ prenatal |
AF |
?dn |
46,XY,r(6)(p25q27) dynamic mosaicism: 45,XY,-6/45,XY,-6,+f/46,XY,r(p25q27) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{125} |
|
| RC/W- 06- p25q27/ 1-3 |
male/ 3y |
PBL |
dn |
46,XX,r(6)(p25q27) dynamic mosaicism: 46,XY,r(6)(p25q27)[17]/45,XY,-6[4]/r-var[6] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{127} |
|
| RC/W- 06- p25q27/ 1-4 |
male/ prenatal |
AF, PBL |
?dn |
46,XY,r(6)(p25q27) dynamic mosaicism: 46,XY,r(6)(p25q27)[44]/45,XY,-6[6] in amnion almost only cells with 45,XY,-6 |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS; TOP |
{128, case
1} |
|
| RC/W- 06- p25q27/ 1-5 |
male/ prenatal |
AF |
?dn |
46,XY,r(6)(p25q27) dynamic mosaicism: 46,XY,r(6)(p25q27)[92]/45,XY,-6[8] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS; TOP |
{128, case
2} |
|
| RC/W- 06- p25q27/ 1-6 |
n.a./ prenatal |
AF |
?dn |
46,X?,r(6)(p25q27) dynamic mosaicism: 46,X?,r(6)(p25q27)[1]/45,X?,-6[19] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS; TOP |
{128, case
3} |
|
| RC/W- 06- p25q27/ 1-7 |
male/ prenatal |
AF |
dn |
46,XY,r(6)(p25q27) dynamic mosaicism: 46,XY,r(6)(p25q27)[21]/45,XY,-6[47] in amnion almost only cells with 45,XY,-6 |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS; TOP |
{130} |
|
| RC/W- 06- p25q27/ 1-8 |
male/ 3m |
PBL |
dn |
46,XY,r(6)(p25q27) |
GTG wcp-FISH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{133} |
|
| RC/W- 06- p25q27/ 1-9 |
male/ newborn |
PBL |
?dn |
46,XY,r(6)(p25q27) dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{134} |
|
| RC/W- 06- p25q27/ 1-10 |
female/ prenatal |
AF PBL, fibro |
dn |
46,XX,r(6)(p25q27) dynamic mosaicism: AF: 45,XX,-6[10]/46,XX,r(6)[5] PBL: 45,XX,-6[3]/46,XX,r(6)[197] fibro: 45,XX,-6[9]/46,XX,r(6)[11] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{135} |
|
| RC/W- 06- p25q27/ 1-11 |
male/ newborn |
PBL |
dn |
46,XY,r(6)(p25q27) |
GTG | DYS, heart disease, hydrocephalus |
{624, case
3} |
|
| RC/W- 06- p25.3q26/ 1-1 |
male/ prenatal |
PBL |
dn |
46,XY,r(6)(p25.3q26) dynamic mosaicism: 46,XY,r(6)[92]/45,XY,-6[5]/ 46,XY[3] Subtelomer 6pter present, 6qter absent |
GTG, FISH, midi |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{126} |
|
| RC/W- 06- p25.3q26/ 1-2 |
female/ 5m |
PBL
|
?dn |
46,XX,r(6)(p25.3q26) Subtelomer 6pter and 6qter absent acc. to aCGH in 6p: 1.3Mb and in 6q 6.7Mb loss |
GTG FISH aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC6-1; 99} |
|
| RC/W- 06- p25.3q27/ 1-1 |
male/ 2y |
PBL
|
dn |
46,XX,r(6)(p25.3q27) dynamic mosaicism: 46,XY,r(6)[82]/46,XY[6]/r-var[12] Subtelomer 6pter and 6qter absent acc. to aCGH in 6p 0.27Mb and in 6q 2.03 Mb loss |
GTG FISH aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case RC6-6; 104} |
|
| RC/W- 06- p25.3q27/ 1-2 |
female/ 15y |
PBL
|
dn |
46,XX,r(6)(p25.3q27) dynamic mosaicism: 46,XX,r(6)(p25.3q27)[16]/45,XX,-6[2]/r-var[1] Subtelomer 6pter and 6qter absent acc. to FISH in 6p: <0.24Mb and in 6q <0.19Mb loss |
GTG FISH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{131}
|
|
| RC/W- 06- p25.3q27/ 2-1 |
female/ 3y |
PBL
|
?dn |
46,XX,r(6)(p25.3q27) dynamic mosaicism: 46,XX,r(6)(p25q27)[67]/45,XX,-6[25]/r-var[8] acc. to aCGH in 6p: 1.5Mb loss |
GTG aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC6-2; 100} |
|
| RC/W- 06- p25.3q27/ 2-2 |
male/ newborn |
PBL
|
?dn |
46,XY,r(6)(p25.3q27) dynamic mosaicism: Subtelomer 6pter absent and 6qter present acc. to aCGH 1.88Mb loss in 6p |
GTG FISH aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC6-7; 105} |
|
| RC/W- 06- p25.3q27/ 3-1 |
female/ 6y |
PBL, fibro
|
dn |
46,XX,r(6)(p25.3q27) dynamic mosaicism: 46,XX,r(6)(p25.3q27)[81]/45,XX,-6[7] acc. to aCGH in 6p: 1.78Mb loss; acc. to NGS also 0.26 Mb loss at 6q22.31 and 0.56Mb at 6qter |
GTG aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC6-3; 101} |
|
| RC/W- 06- p25.3q27/ 4-1 |
male/ 49y |
PBL
|
dn |
46,XY,r(6)(p25.3q27) acc. to aCGH 1.8 Mb in 6p and 2.5Mb dup in 6q |
GTG FISH aCGH |
mild DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC6-4; 102} |
|
| RC/W- 06- p25.3q27/ 5-1 |
male/ 11y |
PBL
|
dn |
46,XY,r(6)(p25.3q27) dynamic mosaicism: 46,XY,r(6)(p25.3q27)[54]/45,XY,-6[13]/46,XY[6]/r-var[15] Subtelomer 6pter and 6qter absent acc. to aCGH in 6p 0.5Mb dup and 1.26 Mb deletion; 0.45 Mb loss in 6q |
GTG FISH aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC6-5; 103} |
|
| RC/W- 06- p25.3q27/ 6-1a and 6-1b |
male/ newborn |
PBL
|
mat |
46,XY,r(6)(p25.3q27) dynamic mosaicism in mother: 46,XX,r(6)(p25q27)[44]/47,XX,r(6)(p25q27) x2[2]/46,XX[15] acc. to aCGH in 6pter: 1.14Mb loss and dup from 1.15-4.17 |
GTG aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC6-9; 107} |
|
| RC/W- 06- p25.2q27/ 1-1 |
female/ ~0y |
PBL
|
dn |
46,XX,r(6)(p25.2q27) acc. to aCGH 3.7Mb loss at 6pter |
GTG aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC6-8; 106} |
|
| RC/W- 06- p25.1q27/ 1-1 |
male/ 2m |
PBL |
dn |
46,XY,r(6)(p25.1q27) dynamic mosaicism: 46,XY,r(6)(p25q27)[84]/r-var[16] Subtelomer 6pter and FOXC1 absent; subtelomer 6qter present |
GTG FISH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{129}
|
|
| RC/W- 06- p25.1q27/ 2-1 |
male/ newborn |
PBL |
dn |
46,XY,r(6)(p25.1q27) acc. to aCGH 4.27Mb loss at 6pter and 0.5Mb in 6qter |
GTG aCGH |
hydrocepalus, cryptorchism, cong.
heart disease |
{905} | |
| RC/W- 06- p24q26/ 1-1 |
male/ newborn |
PBL |
?dn |
46,XY,r(6)(p24q26) dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{119}
|
|
| RC/W- 06- p24q26/ 1-2 |
male/ 1m |
PBL |
dn |
46,XY,r(6)(p24q26) dynamic mosaicism: 46,XY,r(6)(p24q26)[38]/45,XY,-6[9]/r-var[3] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{120}
|
|
| RC/W- 06- p24q26/ 2-1 |
male/ 5y |
PBL |
dn |
46,XY,r(6)(p24q26),del(6)(q27) dynamic mosaicism: 46,XY,r(6)(p24q26),del(6)(q27)[30]/46,XY,del(6)(q27)[20] |
GTG FISH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{132}
|
|