 |
 |
- CHROMOSOME 17 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
- DD = developmental delay (including intellectual disability) - growth retardation - microcephaly - DYS = dysmorphic facial features - also possible: dermatological features (= dispigmentation incl. café-au-lait spots), hypotonia, micrognathia, retinal pigmentation, seizures Miller Diecker syndrome (MDS) in case deletion in 17p: includes corresponding critical region in 17p13.3 - hg19: 2,496,949-2,588,909 Mb NF1 also in case of loss of r(17) and mutation in NF1 Gene in 17q12 (hg19: 29,421,995-29,704,693) on normal chromosome 17 |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 17- p1?3q2?5/ 1-1a and 1-1b |
male/ adult |
PBL |
?dn |
46,XY,r(17)(p1?3q2?5)
|
GTG |
normal son with r(17) with typical RC-syndrome signs |
{597} literature not accessible |
|
| RC/O- 17- p13q25/ 1-1 |
female/ 9y |
PBL |
?dn |
46,XX,r(17)(p13q25)
|
GTG |
mild DD/ ID
and growth retardation |
{1,
case RC17-8; 610} |
|
| RC/O- 17- p13.3q25.3/ 1-1 |
female/ 33y |
PBL |
?dn |
46,XX,r(17)(p13.3q25.3) telomeres present on RC acc. to aCGH no loss or gain |
GTG FISH aCGH |
normal
with dispigmentation; daughter with r(17) with typical RC-syndrome signs |
{1,
case RC17-17/18; 619, case 2} |
|
| RC/O- 17- p13.3q25.3/ 1-2 |
female/ adult |
PBL |
?dn |
46,XX,r(17)(p13.3q25.3) dynamic mosaicism: 46,XX,r(17)[2]/46,XX[98] acc. to aCGH no loss or gain (tested in child) |
GTG aCGH |
normal; 8y old daughter daughter with r(17) in 50-90% of the cells (fibros - blood) with typical RC-syndrome signs |
{1470- provided by Dr. I. Lurie, Maryland, USA} | |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
general clinical
symptoms |
Reference |
|
| RC/W- 17- p1?3q2?5/ 1-1 |
female/ ~1y |
PBL
|
?dn |
46,XX,r(17)(p1?3q2?5) dynamic mosaicism: 46,XX,r(17)/46,XX |
GTG |
DD, growth retardation |
{596}
literature not accessible |
|
| RC/W- 17- p1?3q2?5/ 1-2 |
female/ n.a. |
PBL
|
?dn |
46,XX,r(17)(p1?3q2?5) |
GTG |
DD, microcephaly, growth retardation,
DYS, seizures |
{598}
literature not accessible |
|
| RC/W- 17- p1?3q2?5/ 1-3 |
female/ prenatal |
AF
|
?dn |
46,XX,r(17)(p1?3q2?5) |
GTG |
DD, growth retardation; TOP |
{1, case RC17-1; 599} | |
| RC/W- 17- p1?3q2?5/ 1-4 |
male/ 6y |
PBL
|
?dn |
46,XY,r(17)(p1?3q2?5) |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation | {1, case RC17-2; 600} | |
| RC/W- 17- p1?3q2?5/ 1-5 |
female/ n.a. |
PBL
|
?dn |
46,XX,r(17)(p1?3q2?5) dynamic mosaicism: 46,XX,r(17)/46,XX |
GTG |
no details available |
{602} literature not accessible |
|
| RC/W- 17- p1?3q2?5/ 1-6 |
n.a./ n.a. |
PBL
|
?dn |
46,XX,r(17)(p1?3q2?5) |
GTG |
seizures | {861, 1 case} | |
| RC/W- 17- p1?3q2?5/ 1-7 |
female/ 26y |
PBL
|
?dn |
46,XX,r(17)(p1?3q2?5) |
GTG |
DD, growth retardation, DYS, seizures, dispigmentation; NF1; focal dysplasia in right frontal lobe | {1464 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p1?3q2?5/ 1-8 |
female/ 13y |
PBL hyperpigmented an normal skin |
?dn |
46,XX,r(17)(p1?3q2?5) dynamic mosaicism: blood: 46,XX,r(17)[24]/45,XX,-17[3]/46,XX[73] hyp. skin: 46,XX,r(17)[3]/46,XX[27] normal skin; 46,XX[100%] |
GTG |
DD, growth retardation, DYS, seizures, dispigmentation; NF1; Lisch noduli | {1466 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p1?3q2?5/ 1-9a and 9b |
female and male
(sibs)/ 27y and 11y |
PBL |
?parental |
46,XX,r(17)(p1?3q2?5) |
GTG |
DD, growth retardation, DYS, seizures, dispigmentation; focal dysplasia in right frontal lobe | {1476 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p1?3q2?5/ 2-1 |
female/ newborn |
PBL
|
dn |
46,XX,r(17)(p1?3q2?5) dynamic mosaicism: 46,XX,r(17)[80]/45,XX,-17[5]/46,XX,del(17)(p13.1)[15] |
GTG |
DD, microcephaly, growth retardation, DYS; MDS - lisencephaly; | {1462 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13q25/ 1-1 |
male/ ~0.5y |
PBL, fibro |
?dn |
46,XY,r(17)(p13q25) |
GTG |
DD, microcephaly, growth retardation, DYS | {1, case RC17-3; 601} | |
| RC/W- 17- p13q25/ 1-2 |
male/ ~26y |
PBL |
?dn |
46,XY,r(17)(p13q25) |
GTG |
DD, DYS, seizures | {1, case RC17-4; 603} | |
| RC/W- 17- p13q25/ 1-3 |
male/ 34y |
PBL |
?dn |
46,XY,r(17)(p13q25) |
GTG |
DD, microcephaly, micrognathia, growth retardation, DYS; seizures, retinal pigmentation; dispigmentation | {1, case RC17-9; 611} | |
| RC/W- 17- p13q25/ 1-4 |
male/ 10y |
PBL |
?dn |
46,XY,r(17)(p13q25) |
GTG |
DD, microcephaly, micrognathia, growth retardation, DYS; seizures dispigmentation | {622} | |
| RC/W- 17- p13q25/ 1-5 |
female/ n.a. |
PBL |
?dn |
46,XX,r(17)(p13q25) |
GTG |
n.a. | {625, case 17-1} | |
| RC/W- 17- p13q25/ 1-6 |
female/ 5y |
PBL |
dn |
46,XX,r(17)(p13q25) dynamic mosaicism: 46,XX,r(17)[16]/46,XX[6] acc. to aCGH 1.8Mb loss at 17p and none at 17q |
GTG aCGH |
DD, growth retardation, DYS | {625, case 17-2} | |
| RC/W- 17- p13q25/ 1-7 |
female/ child |
PBL |
dn |
46,XX,r(17)(p13q25) |
GTG |
seizures dispigmentation | {910; 1472 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13q25/ 1-8 |
female/ prenatal |
AF |
dn |
46,XX,r(17)(p13q25) acc. to FISH LIS1 region lost |
GTG FISH |
DD, growth retardation, MDS - lisencephaly; child died at 3m | {1458, case 7 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13q25/ 1-9 |
female/ prenatal |
AF |
dn |
46,XX,r(17)(p13q25) |
GTG |
DD, growth retardation, MDS - lisencephaly; no infor on possible postnatal development | {1461 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13q25/ 1-10 |
female/ 10y |
PBL |
dn |
46,XX,r(17)(p13q25) acc. to FISH subtelomere 17qter lost |
GTG FISH |
DD,
microsephaly, growth retardation, DYS;
seizures, dispigmentation;
NF1; |
{1463 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p1?3q2?5/ 1-11 |
n.a./ n.a. |
PBL
|
?dn |
46,X?,r(17)(p1?3q2?5) |
GTG |
found during newborn screening | {1474 - no case number - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13.3q25.3/ 1-1 |
female/ 17y |
PBL |
?dn |
46,XX,r(17)(p13.3q25.3) acc. to aCGH no loss or gain |
GTG aCGH |
macrocephaly; seizures, dispigmentation; normal intelligence | {1, case RC17-19; 620} | |
| RC/W- 17- p13.3q25.3/ 1-2 |
male/ 20y |
PBL |
?dn |
46,XY,r(17)(p13.3q25.3) |
GTG |
DD, microcephaly, micrognathia, growth retardation, DYS; seizures, retinal pigmentation; dispigmentation | {1, case RC17-7; 609} | |
| RC/W- 17- p13.3q25.3/ 1-3 |
male/ 0.3y |
PBL |
?dn |
46,XY,r(17)(p13.3q25.3) dynamic mosaicism: 46,XY,r(17)[43]/46,XY[7] |
GTG |
DD, microcephaly, micrognathia, growth retardation, DYS; seizures, retinal pigmentation; dispigmentation | {1, case RC17-10; 612} | |
| RC/W- 17- p13.3q25.3/ 1-4 |
male/ n.a. |
PBL |
?dn |
46,XY,r(17)(p13.3q25.3) aCGH - no loss of material |
GTG aCGH OGM |
DD, growth retardation, DYS; seizures | {626, case NA10284; 627} | |
| RC/W- 17- p13.3q25.3/ 1-5 |
male/ 3y |
PBL |
?dn |
46,XY,r(17)(p13.3q25.3) dynamic mosaicism: 46,XY,r(17)[42]/45,XY,-17[5]/46,XY[3] acc. to aCGH no loss or gain |
GTG aCGH |
DD,
microsephaly, growth retardation,
seizures, dispigmentation |
{1468; 1469 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13.3q25.?3/ 2-1 |
male/ 28y |
PBL |
?dn |
46,XY,r(17)(p13.3q25.?3) MDS region present |
GTG FISH |
DD, microcephaly, micrognathia, growth retardation, DYS; seizures, retinal pigmentation; dispigmentation | {1, case RC17-11; 613, case 1} | |
| RC/W- 17- p13.3q25.?3/ 2-2 |
male/ 14y |
PBL |
?dn |
46,XY,r(17)(p13.3q25.?3) MDS region present |
GTG FISH |
DD, microcephaly, micrognathia, growth retardation, DYS; seizures, retinal pigmentation; dispigmentation | {1, case RC17-12; 613, case 2} | |
| RC/W- 17- p13.3q25.?3/ 2-3 |
male/ 25y |
PBL |
?dn |
46,XY,r(17)(p13.3q25.?3) MDS region present |
GTG FISH |
DD, seizures, retinal pigmentation | {1, case RC17-15; 617} | |
| RC/W- 17- p13.3q25.3/ 3-1 |
male/ 4y |
PBL, fibros |
?dn |
46,XY,r(17)(p13.3q25.3) dynamic mosaicism: blood: 46,XY,r(17)[27]/46,XY[3] fibros - no cells with -15 telomeric regions absent |
GTG FISH |
DD, seizures, dispigmentation; DYS | {1, case RC17-15; 617} | |
| RC/W- 17- p13.3q25.3/ 3-2 |
female/ stillborn |
PBL fibros |
?dn |
46,XX,r(17)(p13.3q25.3) dynamic mosaicism: blood only cells with r(17) fibros: 46,XX,r(17)[36]/45,XX,-17[4] subtelomeric regions present |
GTG FISH |
DD, microcephaly, DYS, heart defect | {1460 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13.3q25.3/ 3-3 |
female/ 13y |
PBL
|
?dn |
46,XX,r(17)(p13.3q25.3) Subtelomer 17pter absent and 17qter present |
GTG FISH |
DD, growth retardation, DYS, seizures, dispigmentation; NF1 | {1467 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13.3q25.3/ 4-1 |
male/ 4y |
PBL |
dn |
46,XY,r(17)(p13.3q25.3) MDS region present Subtelomer 17pter absent and 17qter present |
GTG FISH |
DD, microcephaly, growth retardation, seizures | {1, case RC17-13; 614} | |
| RC/W- 17- p13.3q25.3/ 4-2 |
female/ 1.,5y |
PBL |
dn |
46,XX,r(17)(p13.3q25.3) dynamic mosaicism: 46,XX,r(17)[64]/45,XX,-17[3]/46,XX[33]* *subtel 17pter deletion also in these cells MDS region present Subtelomer 17pter absent and 17qter present |
GTG FISH |
DD, microcephaly, growth retardation, DYS; seizures, dispigmentation; NF1 | {1465 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13.3q25.3/ 5-2 |
female/ 5y |
PBL |
?dn |
46,XY,r(17)(p13.3q25.3) acc. to aCGH 1.8Mb loss at 17p |
GTG aCGH |
DD, microcephaly, micrognathia, growth retardation, DYS; seizures, dispigmentation | {623} | |
| RC/W- 17- p13.3q25.3/ 5-1 |
female/ 10y |
PBL |
?dn |
46,XY,r(17)(p13.3q25.3) dynamic mosaicism: 46,XY,r(17)[83]/45,XY,-17[12]/46,XY,r-var(17)[5] acc. to aCGH 1.9Mb loss at 17p and 1Mb at 17q |
GTG aCGH |
DD, microcephaly, micrognathia, growth retardation, DYS; seizures, dispigmentation | {1, case RC17-14; 615; 616} | |
| RC/W- 17- p13.3q25.3/ 6-1 |
male/ ~0.2y |
PBL |
dn |
46,XY,r(17)(p13.3q25.3) as MDS deletion in 17p of at least 2.6Mb |
GTG |
DD, microcephaly, growth retardation, DYS; Miller Diecker syndrome (MDS) | {1, case RC17-5; 604; 605} | |
| RC/W- 17- p13.3q25.3/ 7-1 |
female/ 31y |
PBL |
?dn |
46,XY,r(17)(p13.3q25.3) acc. to aCGH ~0.5Mb loss in 17q25.3 (interstitial) - hg38: 82.6-83.0Mb |
GTG aCGH |
DD, seizures, dispigmentation | {1, case RC17-20; 621} | |
| RC/W- 17- p13.2q25.3/ 1-1 |
male/ n.a. |
PBL |
?dn |
46,XY,r(17)(p13.2q25.3) acc. to aCGH 5.7Mb loss in 17pter |
GTG aCGH |
DD, DYS, Miller Diecker syndrome (MDS) |
{626, case NA06047; 627} | |
| RC/W- 17- p13.2q25.3/ 1-2 |
male/ prenatal |
AF |
dn |
46,XY,r(17)(p13.2q25.3) acc. to aCGH 4Mb loss in 17pter |
GTG FISH aCGH |
DD, DYS, Miller Diecker syndrome (MDS), TOP |
{1475 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13.2q25.3/ 2-1 |
male/ prenatal |
cord blood |
?dn |
46,XY,dr(17)(p13.2q25.3) acc. to aCGH 5.7Mb loss in 17pter and ~1Mb in 17qter; also dup ~74.2Mb leading to dr |
GTG aCGH |
VSD; DYS of copus callosum; MDS; TOP |
{1471, case 3; 1473, case E3533 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 17- p13.1q25.3/ 1-1 |
female/ ~0.2y |
PBL |
dn |
46,XX,r(17)(p13.1q25.3) |
GTG |
DD, microcephaly, micrognathia, growth retardation, DYS; dispigmentation | {1, case RC17-6; 608} | |
| RC/W- 17- p12q22/ 1-1 |
male/ 12y |
PBL |
dn |
46,XY,r(17)(p12q22) |
GTG |
DD, growth retardation, DYS; dispigmentation; seizures, hypertrichosis | {1459, case 1 - provided by Dr. I. Lurie, Maryland, USA} | |
Ref 607 - only review or RC(17) cases