 |
 |
- CHROMOSOME #1 -
NORMAL
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(1)mat | UPD(1)pat | UPD(1)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 |
|
***
01-O- p13.2/ 1-1 |
female/ 32y |
PBL |
n.a. |
47,XX,+mar[78%]/ 46,XX[22%] |
min(1)(:p13.2→q11:) RP11-130B18 (115.8MB-cen) |
cenM, subcenM |
normal women, previous pregnancy
child with arthrogryposis multiplex |
{0}
provided from Germany |
| 01- O- p13.2/ 2-1 |
female/ 44y |
PBL (EKF- cellbank) |
n.a. |
47,XX,+mar[40%]/ 46,XX[60%] 4 years later sSMC only in 16% |
r(1)(::p13.2→q12::) (115.2MB-cen) [hg19] |
aCGH FISH with centromeric probes |
normal female; in 1 year old healthy
daughter same marker found prenatally in 12/20
cells |
{0}
|
| 01- O- p12/ 1-1 |
female/ 33y |
PBL |
de novo and passed to one child
maternal
|
47,XX,+min[30%]/ 46,XX[70%] |
min(1) (:p11.2~12→q12:) |
cep probes subcenM |
healthy woman; sSMC detected due to
advanced maternal age in second pregnancy and
first pregnancy with trisomy 18 |
{41} case
1-22 |
| 01- O- p12/ 1-2 |
male/ prenatal |
PBL |
n.a. |
47,XY,+min[24]/ 46,XY[6] |
mar(1)(:p12→q1?2:) array-CGH: 118.326.077- 120.311.644 |
array-CGH, wcp 1 |
advanced maternal age; healthy young
man at age of 14y |
{0} provided from Switzerland
|
| 01- O- p11.2/ 1-1 |
n.a./ prenatal |
PBL | maternal (in 55% of PBL) |
47,XN,+r[100%] | r(1)(::p11.2→q10::) RP11-115N23 (120.9MB) on 1p present on sSMC |
M-FISH; cep 1/5/19; BACs{42} subcenM
like; UPD-test |
advanced maternal age; normal child | {42} case 5 |
| 01- O- p11.1/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[50%]/ 46,XY[50%] |
min(1)(:p11.1→q11:) | cenM subcenM |
advanced maternal age; no ultrasound abnormalities; child born without abnormalities with 3500g, length 52cm, OFC 35cm, APGAR 9/10/10 | {70} |
| 01- O- p11.1/ 1-2 |
male/ adult |
PBL | de novo | 47,XY,+r[70%]/ 46,XY[30%] |
r(1)(::p11→q11::) | M-FISH; cep
1/5/19; BACs{42} subcenM like; UPD-test |
healthy male; 2 spontaneous abortions in partnership | {42} case 3 {62} case 1 {85} case 1-1 |
| 01- O- p11.1/ 1-3 |
female/ adult |
PBL | de novo | 47,XX,+r[40%]/ 46,XX[60%] |
r(1)(::p11→q11::) | M-FISH; cep
1/5/19; BACs{42} subcenM like; UPD-test |
healthy female; 5 year history of infertility | {42} case 4 {62} case 2 {85} case 1-2 |
| 01- O- p11.1/ 2-1 |
female/ prenatal |
AF | de novo | 47,XX,+r[7]/ 46,XX[28] |
r(1)(::p11.1→q21.1::) | cenM subcenM |
advanced maternal age; no ultrasound abnormalities; child born without abnormalities | {39} {41} case 1-21 |
| 01- O- p11.1/ 3-1 |
female/ 31y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[100%] | min(1)(:p11.1→q12:) | cenM subcenM; UPD-test |
healthy female; familial history of repeated abortions | {62}
case 3 {85} case 1-3 |
| 01- O- p11.1/ 3-2 |
male/ 44y |
PBL | n.a. | 47,XY,+mar[53%]/ 46,XY[47%] |
min(1)(:p11.1→q12:)* | M-FISH; CGH, wcp 1; UPD-test | healthy male; habitual abortions in his wife (10x) | {67} case 1 {85} case 1-4 |
| 01- O- p11.1/ 3-3 |
female/ prenatal |
AF | de novo | 47,XX,+mar[5]/ 46,XX[23] |
min(1)(:p11.1→q12:) aCGH: no centromere-near euchromatin |
cenM subcenM midi; aCGH; UPD-test |
advanced maternal age, repeated abortions, healthy child born, normal at 1 y | {70} {85} case 1-5 {0} |
| 01- O- p11.1/ 3-4 |
male/ 44y |
PBL | n.a. | 47,XY,+mar[64%]/ 46,XY[36%] |
min(1)(:p11.1→q12:)* | wcp 1, cep1 | healthy male; with oligoasthenozoospermia | {64} case 1 {85} case 1-6 |
| 01- O- p11.1/ 3-5 |
female/ prenatal |
AF |
n.a. | 47,XX,+mar[18]/ 46,XX[37] |
min(1)(:p11.1→q12:) | cenM, subcenM | advanced maternal age, no US abnormalities. child born and normal at 9 months | {0} provided from Germany |
| 01- O- p11.1/ 3-6 |
female/ 35y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[12]/ 46,XX[8] |
min(1)(:p11.1→q12:) | cenM, subcenM | healthy female, detected due to abortions at age over 35y | {85} case 1-7 |
| 01- O- p11.1/ 3-7 |
female/ 34y |
PBL | n.a. | 47,XX,+mar[20]/ 46,XX[80] |
min(1)(:p11.1→q12:) | cenM, subcenM | healthy
female, detected due to infertility |
{85} case 1-8 |
| 01- O- p11.1/ 3-8 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[7]/ 46,XY[13] |
min(1)(:p11.1→q12:) | cenM, subcenM | AMA; normal child born | {0} provided from Germany |
| 01- O- p11.1/ 3-9 |
male/ prenatal |
AF | mat | 47,XY,+mar[100%] | min(1)(:p11.1→q12:) | cen probes and
D1Z1 for 1q12 |
AMA, normal
child born and normal at 6 months; mother
normal |
{0} provided from Germany |
| 01- O- p11.1/ 3-10 |
male/ prenatal |
AF; umbilical
cord blood |
n.a. | 47,XY,+mar[13]/ 46,XY[52] sSMC in 100% in blood |
min(1)(:p11.1→q12:) | cenM, subcenM | NIPT test
inidicates trisomy 13; no der(13) but der(1);
normal child born |
{0} provided from Germany |
| 01- O- p11.1/ 3-11 |
female/ adult |
PBL |
n.a. | 47,XX,+mar[23]/ 46,XX[7] |
min(1)(:p11.1→q12:) | cenM, subcenM | healthy female, detected due to infertility | {0} provided from Norway |
| 01- O- p11.1/ 3-12 |
female/ adult |
PBL |
n.a. | 47,XX,+mar[100%] | min(1)(:p11.1→q12:) | cenM, subcenM | healthy female, detected due to infertility | {0} provided from Germany |
| 01- O- p11.1 3-13 |
male/ adult |
PBL |
n.a. | 47,XY,+mar[12]/ 46,XY[30] |
min(1)(:p11.1→q12:) | cenM, subcenM | healthy male, detected due to infertility | {0}
provided from Spain |
| 01- O- p10/ 1-1 |
female/ prenatal newborn |
AF PBL |
de novo | 47,XX,+r[26%]/ 46,XX[74%] r present in only 8% of PBL |
r(1)(::p10→q12::)* | all available centromeric probes | amniocentesis due to low serum AFP; no ultrasound abnormalities; child normal at 9m of age | {12} case 1 |
| 01- O- p10/ 1-2 |
female/ prenatal newborn |
chord blood PBL |
de novo | 47,XX,+r[40%]/ 46,XX[60%] (chord blood); in PBL sSMC in 20% |
r(1)(::p10→q12::) RP11-79E5 (141.9 MB) on 1q present on sSMC |
M-FISH; cep
1/5/19; BACs{42} subcenM like; UPD-test |
advanced maternal age; normal at birth and at 1 y | {42} case 2 |
| 01- O- p10/ 2-1 (before by mistake 01-O-p10/1-1) |
male/ prenatal; newborn |
CH; AF; PBL | de novo | only in
chorionic cells: 47,XY,+mar[2]/ 46,XY[28] no sSMC in 100 PBL cells postnatally |
min(1)(:p10→q12:) | cenM subcenM; UPD-test |
AMA and mucoploysaccaridose II with known mutation (c708G->A) in mother; no mar in amnion cells; healthy child born | {0; 70} |
| 01- O- p10/ 3-1 |
female/ 37y |
PBL | n.a. | 48,XX,+mar1,+mar2[20]/ 47,XX,+mar1[13] |
mar1: ish
min(1)(:q12→p10:p10→12:) mar2: min(1)(:p11.1→q11:) |
cenM subcenM |
signs of DD
postnatally, lateron normal development |
{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 |
| 01- O- IMB q11/ 1-1 |
male/ 9y |
PBL | maternal | 46,XY,dup(1)(q11q22) | CGH, YAC in 1q22 (930F5 - not in UCSC) | detected in child with T-lymphoblastic leukemia; mother an three other family members normal | {53} |
| 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 |
| 01- CO- 1 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | ish mar(1)(D1Z5+) | different FISH-probes: D1Z5; |
healthy male; mother healthy as well | {9} case 15 |
| 01- CO- 2 |
female/ prenatal |
AF cell line at ECACC DD0943 |
de novo | 47,XX,+mar[100%] | ish mar(1) (cep1+;wcp1-) | all centromeric probes; wcp 1; UPD-test | born clinically normal | {4} case 1 {19} case 1 |
| 01- CO- 3 |
male/ 25y |
PBL | n.a. | 47,XY,+mar[10%]/ 46,XY[90%] |
r(1) | all centromeric probes | born clinically normal; marker detected due to CML disease | {15;16} case 17 |
| 01- CO- 4 |
male/ 1y |
PBL | de novo | 47,XY,+mar[?%]/ 46,XY[?%] |
dic(1) | all centromeric probes | normal at 1 y | {38} case 7 |
| 01- CO- 5 |
n.a./ prenatal |
AF | maternal | 47,+mar[?%] | r(1) | n.a. | normal mother, sSMC found prenatally in 2 subsequent pregnancies | {69} 1 case |
| 01- CO- 6 |
male/ 39y |
PBL | n.a. | 47,XY,+mar[25]/ 46,XY[25] | r(1)* most likely only alpha sat and 1q12 present |
1q12 FISH probe | normal male, infertile | {87} |
| 01- CO- 7 |
male/ adult |
PBL | n.a. | 47,XY,+mar[10]/ 46,XY[10] |
min(1) | FISH, no result in aCGH |
normal male, severe oligozoospermia | {91} case 6 |