 |
 |
- CHROMOSOME #19 -
NORMAL
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(19)mat | UPD(19)pat | UPD(19)mat or pat |
| 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 |
| 19- O- p13.11/ 1-1 |
female/ prenatal |
AF, PBL (EKF- cellbank) |
de novo | 47,XX,+mar[64]/ 46,XX[24] |
min(19)(:p13.11→q11~12:) FISH-data: RP11-22G10 (22.98MB) on sSMC |
cenM; subcenM, UPD-test | AMA; normal child, APGAR 9/10/10; weight 3720g, length 54 cm; OFC 35.5 cm; at two years normal and well developed (U7 was normal) | {0} provided from Germany |
| 19- O- p13.11/ 2-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[10-15%]/ 46,XX[85-90%] |
min(19)(:p13.11→q12:)[2]/ min(19)(:p12→q12:)[1] |
cenM; M-FISH, subcenM | AMA; ultrasound normal; normal child born | {0} provided from Germany |
| 19- O- p13.11/ 2-2 |
male/ 40y |
PBL | n.a. |
47,XY,+mar[100%] | min(19)(:p13.11→q12:) | cenM; M-FISH, subcenM | normal male,
infertile |
{0} provided from Greece |
|
***
19-O- p13.11/ 3-1 |
female/ 28y |
PBL (EKF- cellbank) |
de novo | 47,XX,+mar[60%]/ 46,XX[40%] |
min(19)(:p13.11→q11:)[3]/ r(19)(::p13.11→q11::)[9]/ r(19)(::p13.11→q11: :p13.11→q11::)[2] FISH-data: RP11-22G10 (22.98MB) on sSMC aCGH: 17.50-33.59 |
midi; MCB;
subcenM; aCGH |
normal female | {52} case Srm-3 |
| 19- O- p13.11/ 4-1 |
female/ 43y |
PBL | n.a. | 47,XX,der(7)inv(7)(p22q36)inv(7)(q31.2q36),+mar[15]/ 46,XX,der(7)inv(7)(p22q36)inv(7)(q31.2q36)[67] |
r(19)(:p13.1→q11:) | locus spec. probes, aCGH | normal female, detected due to clin. abnormal daughter | {43} |
| 19- O- p13.11/ 5-1 |
female/ adult |
PBL | n.a. | 47,XX,+mar[8]/ 46,XX[7] |
47,XX,+min(19)(:p13.11→q12:)[3]/ 47,XX,+min(19)(:q13.11→p12: :p12→q13.11:)[2]/ 47,XX,+min(19)(:p12→q13.11:)[2]/ 47,XX,+min(19)(:p13.11→q12: :q12→p13.11:)[1]/ 46,XX[7] |
cenM; subcenM | normal female, pregnant | {0} provided from Serbia |
| 19- O- p13.1/ 1-1 |
male/ prenatal |
CH | n.a. | 47,XY,+mar[10-50%]/ 46,XY[50-90%] |
r(19)(:p13.1→q13.11:) | midi; rev.
FISH |
AMA; normal
child born, normal at 7 y |
{0} |
| 19- O- p12/ 1-1 |
male/ 3y |
PBL cell line at ECACC DD0817 |
de novo | 47,XY,+mar[90%]/ 46,XY[10%] |
r(19)(::p12→q12::) | FISH with all available centromeric probes, cernM, subcenM, MCB; UPD test only for #16 | AMA; clinically normal at 17m | {2} case 16 {18} case 9 {19} case 8 |
| 19- O- p12/ 1-2 |
male/ prenatal |
AF | mat (in mother 10% in PBL) |
47,XY,+mar[100%] | r(19)(::p12→q12::) FISH: RP11-644P15 and RP11-719O4 on sSMC aCGH: not informative for 19p; break in 19q: 29.99 Mb (hg19) |
aCGH FISH |
normal at 2 y, mother normal | {58} case 7 and 8 |
| 19- O- p12/ 1-3 |
male/ 17y |
PBL | n.a. |
47,XY,+mar[9]/ 46,XY[21] |
r(19)(::p12→q12::) |
midi;
subcenM |
normal with
overgrowth |
{0} provided from Germany |
| 19- O- p12/ 1-4 |
male/ 27y |
PBL | n.a. |
47,XY,+mar[77]/ 46,XY[23] |
min(19)(::p12→q12::) |
cenM,
subcenM |
normal with
overgrowth |
{0} provided from Greece |
| 19- O- p12/ 2-1 |
female/ 28y |
PBL | n.a. | 47,XX,+mar[20%]/ 46,XX[80%] |
min(19)(:p12→q11::q11→p12:) | cenM; subcenM | normal female, repeated abortions | {0} provided from Germany |
| 19- O- p12/ 3-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[16%]/ 46,XY[84%] |
min(19)(:p12→q11~12:) FISH: RP11-644P15 on sSMC; RP11-719O4 not on sSMC aCGH: not informative |
aCGH; FISH | normal male at 1y | {58} case 6 |
| 19- O- p12/ 4-1 |
n.a./ prenatal |
AF |
mat | 47,XN,+mar[33]/ 46,XY[47] |
mar(19)(:p12→q13.11:) aCGH: hg19: 23.204294-33.088377 |
aCGH | mother
normal female child born |
{64}
case 10 |
| 19- O- p12~11.1/ 1-1 |
female/ 29y |
PBL | n.a. | 47,XX,+mar[30%]/ 46,XX[70%] |
min(19)(:p12~11→q11~12:) |
cenM; 19q12
probe |
normal
female; infertile |
{0} case
provided from Portugal |
| 19- O- p12~11.1/ 1-2 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[51]/ 46,XX[15] |
min(19)(:p12~11→q11~12:) |
cenM; 19q12
probe, subcenM |
normal at 2
years; heart defect repaired and preauricular sinus |
{0} provided from Croatia |
| 19- O- p11.1/ 1-1 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | min(19)(:p11.1→q12:) |
cenM; 19q12
probe |
normal male;
loss of pregnancies in partnership |
{0} case provided from
Portugal |
|
***
19-O- p11/ 1-1 |
female/ 31y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[25]/ 46,XX[75] |
min(19)(:p11.1→q13.1:) FISH-data: RP11-14D17 (36.90MB) on sSMC aCGH: 32,981,858-43,889,713 MB |
cenM;
subcenM; aCGH |
genital hypoplasia | {23} case 12 |
| 19- O- p11/ 2-1 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[17]/ 46,XY[2] |
min(19)(:p11→q11:) | cenM; subcenM | AMA, postnatal no problems | {0} provided from Germany |
| 19- O- p11/ 2-2 |
female/ 38y |
PBL | n.a. | 47,XX,+mar[50%]/ 46,XX[50%] |
min(19)(:p11→q11:) | cenM; subcenM | normal female, infertile | {0} provided from Germany |
| 19- O- p11/ 2-3 |
female/ 41y |
PBL | n.a. | 47,XX,+mar[50%]/ 46,XX[50%] |
min(19)(:p11→q11:) | cenM; subcenM | normal female, infertile | {0} provided from Germany |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 19- O- IMB- p or q/ 1-1 |
- |
- |
- |
- |
- |
- |
- |
| 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 |
| 19- CO- 1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[?]/ 46,XY[?] |
r(19) | different FISH probes (cep1/5/19; wcp 19) | normal | {3} case
17 {4} case 5 |
| 19- CO- 2 |
male/ prenatal |
AF PBL |
de novo | 47,XY,+r[29]/ 46,XY[21] r present in 46% of PBL |
r(19) | all centromeric probes | AMA. normal at age of 18m | {6} case 2 |
| 19- CO- 3 |
female/ prenatal |
AF PBL |
de novo | 47,XX,+mar[14]/ 46,XX[8] |
?r(19)(::p11~13.1→ q11~13.1::)* |
centromeric probes, wcp 1, 5, 19 | AMA. normal at age of 3y | {16} case 15 |
| 19- CO- 4 |
female/ adult |
PBL | n.a. | 47,XX,+mar[?100%] | mar(19) |
n.a. | normal female; mar detected due to mar presence in unborn child | {20} mother of case 74 |
| 19- CO- 5 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[3]/ 46,XX[16] |
mar(19) |
wcp 19 | normal child born | {53} case 22 |