 |
 |
- CHROMOSOME #20 -
NORMAL
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(20)mat | UPD(20)pat | UPD(20)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 |
| 20- O- p12.2/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[20%]/ 46,XY[80%] |
r(20)(::p12.2~12.3→q11.1::)[5]/r(20)(::p12.1→q11.1::q11.1→p12.1::)[2]/min(20)(:p12.1→q11.1::q11.1→p12.1:)[1] FISH-data: RP11-96L6 in (25.47MB) on sSMC |
cenM; subcenM; UPD-test | healthy child born, normal after 3 months | {0} {42; 47 case 13} {58} |
|
***
20-O- p12.1/ 1-1 |
n.a./ prenatal |
AF | maternal | 47,XN,+mar[100%] | min(20)(::p12.1→q11.1::) aCGH (hg19): break in 14,799,098 |
aCGH;
subcenM |
AMA; healthy
mother; |
{0} |
| 20- O- p11.23/ 1-1 |
female/ adult |
PBL | familial | 47,XX,+mar[?%]/ 46,XX[?%] |
mar(20)(p11.23→q11.21) size 6.6 MB |
n.a.; subcenM with 3 BACs, aCGH | see below | {29} mother of case 21 |
| Normal female; sSMC detected due to child with mild developmental delay; patient rolled at 7 months of age, crawled at 11 months of age, and pulled to stand and cruised at 12 months of age; patient has a two word vocabulary at 12 months of age; developed seizures at 10 months of age; mild dysmorphic features; normal head MRI. The patient’s mother, two siblings, and maternal grandfather carry the marker in a mosaic state. All family members are phenotypically normal. | ||||||||
|
***
20-O- p11.21~ 11.22/ 1-1 |
male/ prenatal |
AF chord blood |
de novo | 47,XY,+mar[10]/ 46,XY[55] paternal isodisomy |
see below | cenM, subcenM; UPD-test | AMA; healthy
child born at term, normal at 3 months of
age; most likely later Pseudohypoparathyoridism
type Ib (PHP-Ib) |
{58} |
| in AF:
min(20)(:p11.22~11.21→q11.1:) ,
in chord blood: min(20)(:p11.22~11.21→q11.1:)[8]/
min(20)(:p11.22~11.21→q11.1::q11.1→p11.22~11.21:)[4]/min(20)(:p11.1→q11.21:)[1] FISH-data: RP11-96L6 in 20p (25.47MB) and RP11-243J16 in 20q (29.93MB) on sSMC |
||||||||
| 20- O- p11.21/ 1-1 |
female/ 34y |
PBL | de novo | 47,XX,+mar[13]/ 46,XX[2] |
see below | M-FISH; subcenM | normal phenotype; normal mental development; normal cyclus and normal female habitus, but no children with 2 different partners over 10 years | {35} case 96 {43} {64} case 20-1 |
| 47 chromosomes: mar1: min(20)(:20p11.21→20q11.21:)[5]/mar2:min(20)(:20p11.1→20q11.21:)[1]/mar3:r(20)(::20p11.1→20q11.21::)[1]/ mar4:r(20)(::20p11.1→20q11.21::20p11.1→20q11.21::)[5]/mar5: min(20)(:20p11.1→20q11.21::20p11.21→20p11.1:)[7]/ mar6: inv dup(20)(:20p11.1→20p11.21::20q11.21→20p11.1::20p11.1→20q11.21::20p11.21→20p11.1:)[1]/ mar7: inv dup(20)(:20q11.1→20q11.21::20p11.21→20q11.1::20q11.1→20p11.21:)[1]/ mar8: inv dup(20)(:20q11.1→20q11.21: :20p11.21→20q11.1::20q11.1→20p11.1:)[1] 48 chromosomes: mar9: min(20)(:20q11.1→20p11.21::20q11.21→20q11.1:) plus mar4: r(20)(::20p11.1→20q11.21::20p11.1→20q11.21::)[1] FISH-data: RP11-96L6 in (25.47MB) and] RP11-243J16 in (29.93MB) on sSMC; aCGH: 23,152,443-29,852,809 MB |
||||||||
|
***
20-O- p11.21/ 2-1 |
female/ prenatal |
AF chord blood |
de novo (?) | 47,XX,+mar[43%]/ 46,XX[57%] |
min(20)(:p11.21→q11.21:)* FISH-data: RP5-1025A1 in 20p (24.96MB) to RP5-867M17 (29.78MB) in 20q |
M-FISH BACs |
AMA; healthy child born, however, with growth retardation and obesity at 4 months of age | {46} case 2 |
| 20- O- p11.1/ 1-1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[?] | min(20)(:p11.1→q11.1:) | M-FISH; cenM; UPD-test | AMA; child born without any signs or symptoms | {4} case 10 |
| 20- O- p11.1/ 1-2 |
female/ prenatal |
AF | de novo | 47,XX,+mar[80%]/ 46,XX[20%] |
min(20)(:p11.1→q11.1:)* | FISH with centromeric probes for chrs. 2, 20, X and wcp 20 | AMA; child born without any signs or symptoms and normal at age of 20 months | {9} case 2 {11} case 35 or 36 |
| 20- O- p11.1/ 1-3 |
female/ adult |
PBL | n.a. | 47,XX,+mar[100%] | min(20)(:p11.1→q11.1:)* | midi | female normal; studied due to the birth of a child, which died shortly after birth with a karyotype 92,XXXX,+marx2 | {16} |
| 20- O- p11.1/ 1-4 |
male/ prenatal |
AF | de novo | 47,XY,+mar[3]/ 46,XY[17] |
r(20)(::p11.1→q11.1::) | cen 20, wcp 20, telomeric probes | Amniocentesis due to abnormal triple marker screen; born at term (birth weight: 2,750 g); at 6 m and 4y phenotypically normal | {20} case 1 |
| 20- O- p11.1/ 2-1 |
male/ prenatal |
AF PBL (chord-blood) |
de novo | 47,XY,+r[80%]/ 46,XY[20%] (in chords blood mar only in 9%) |
r(20)(:p11.?1→q11.?1:)* | FISH with centromeric probes for chrs. 2, 18, 20, Y and wcp 20 | AMA; child born without any signs or symptoms apart from a isolated syndactyly, type I of toes 2 and 3. At age of 20 months and later at 8 years boy normal | {9} case 1 {11} case 35 or 36 {0} provided by Dr. Manolakis, Athens, Greece |
|
***
20-O- p11.1/ 3-1 |
female/ 42y |
PBL | n.a. | 47,XX,+mar[28]/ 46,XX[10] |
r(20)(::q11.21→p11.1: :p11.1→q11.21::) FISH-data: RP11-96L6 in (25.47MB) and[nbsp] RP11-243J16 in (29.93MB) on sSMC |
cenM, subcenM | normal female, primary amenorrhea | {64} case 20-2 |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 20- 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 |
| 20- CO- 1 |
male/ 35y |
PBL sperm |
maternal (mother has mar in 3.14% of PBL) |
47,XY,+mar[4]/ 46,XY[96] 8,25% in sperm |
mar(20) | centromeric probes | normal - but three miscarriages in his wife | {23} {35} case 97 {64} case 20-3 |
| 20- CO- 2 |
male/ 35y |
PBL sperm |
de novo | 47,XY,+mar[80%]/ 46,XY[20%] 8,25% in sperm |
mar(20)(wcp20+,D20Z1+) | all centromeric probes; wcp 20 | normal but azoospermia | {24} {35} case 98 {64} case 20-4 |
| 20- CO- 3 |
male/ adult |
PBL | de novo | 47,XY,+mar[?100%] | mar(20) | n.a. | normal male ; mar detected due to marker presence in unborn child | {27} father of case 77 |