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- CHROMOSOME #20 -
UNCLEAR
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- U- 1 |
see mult 2-6 | |||||||
| 20- U- 2 |
see -0Xf-20-1 | {25} | ||||||
| 20- U- 3 |
female/ prenatal |
AF | de novo | 47,XX,+mar[?%]/ 46,XX[?%] |
r(20)(::p13→q13.32::)[7]/ r(20)(::p13→q13.32: :p13→q13.32::)[1] |
cenM; subcenM, MCB |
AMA; TOP | {0} provided by Dr. Mazauric, Düsseldorf, Germany |
| 20- U- 4 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | mar(20) | n.a. | AMA; TOP | {27} case 76 |
| 20- U- 5 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[20]/ 46,XY[3] |
r(20)(::q11.21→q13.12::) | n.a. | AMA; half of twin with the other fetus being carrier of a mar(20)(investigated elsewhere) | {48} case 20 |
| 20- U- 6 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | min(20)(:p11.21→q11.21:) | cenM, subcenM | n.a. | {0} provided by Dr. Alves, Porto, Portugal |
| 20- U- 7 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[100%] | min(20)(:p11.1→q11.1:) | cenM, subcenM | n.a. | {0} provided by Dr. Alves, Porto, Portugal |
| 20- U- 8 |
see 20-W-p11.1/5-1 | |||||||
| 20- U- 9 |
see 20-Uu-1 | |||||||
| 20- U- 10 |
see 20-Uu-2 | |||||||
| 20- U- 11 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[90%]/ 46,XY[10%] |
r(20)(::p11.1→q11.2::)[10]/min(20)(:p11.1→q11.2:)[2] FISH-result for break in long arm: between 38.11 and 46.72 MB |
wcps, subcenM, PCL-FISH | postnatal bilatheral sensorineural hearing loss | {54} case 21 |
| 20- U- 12 |
female/ prenatal |
AF/ PBL | de novo | in AF -
46,XX[15] in PBL: 47,XXX[2]/ 47,XX,+mar[17]/ 46,XX[2] |
mar(20)(:p11.1→q11.21::) aCGH cen20 to 32.09 MB besides: der(20)del(20)(p12.2p12.2)dup(20)(p12.2p12.1) |
FISH; aCGH | congenital heart defect, preauricular tags, growth retardation | {55} case 9 |
| 20- U- 13 |
male/ prenatal |
AF | de novo | 47,XY,+20[3]/ 47,XY,+mar[14]/ 46,XY[3] |
min(20)(:p12~13→q11.1:) | subcenM | plexuscysts, cleft lip and palate | {0} provided by Dr. Mitulla, Suhl |
| 20- U- 14 |
n.a./ postnatal |
PBL | n.a. | 47,XN,+mar[?%] | r(20) | FISH | n.a. | {60} 1 case |
| 20- U- 15 |
female/ prenatal |
CVS | de novo | 47,XX,+mar[100%] | min(20)(:p11.21→q12:) aCGH: 24.82-37.14 MB |
aCGH | AMA, n.a. | {62} case CVS-1 |
| 20- U- 16 |
see 20-Uu-3 | |||||||
| 20- U- 17 |
female/ prenatal |
CVS | de novo | 48,XX,+marx2[100%] | min(20)(:p13→q11.21:) hg19: 600,001-29,700,000 |
FISH, cep 20; NIPT; aCGH |
normal child born as
confined placental mosaic |
{70} |
| 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- Uc- 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- Ud- 1 |
male/ 1m |
PBL | de novo | 47,XY,+mar[48%]/ 46,XY[52%] |
r(20)(::p10→q12: :q13.2→q13.33::) |
midi | Birth weight: 3510g, length: 48cm; mental retardation, behavioral problems, low-set ears, and restricted mobility in the hips | {5} case O {6} case E {14} case 24 |
| 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- Uu- 1 |
male/ 1m |
PBL | de novo | 47,XY,+mar[100%] | min(20)(pter→q11.1:) maternal UPD 20 |
centromeric probes, subcenM, MCB; UPD-test | see below | {0} |
| born at 36 weeks gestation; birth weight - 1.92kg; at birth - plagiocephaly; micrognathia; long philtrum; high arched palate; low set ears; slightly widened bulbar fingers; slightly prominent occiput and prominent forehead; right inguinal hernia; inverted nipples; hypospadias; torticollis; a heart scan at 3m showed 4 VSDs and a PFO. He also suffers from gastroesophagial reflux; mild optic nerve hypoplasia, nystagmus and some asymmetric opsoclonus - more in the left eye than right eye. MRI brain scan in at 10m of age revealed a wide range of craniocerebral abnormalities, neurodevelopment delay; dysplastic inner ear on left side and cerebellar tonsillar ectopia through the foramen magnum. At 1y he was operated on to lower his left un-descended testicle. Spine MRI and X-rays at 13m showed scoliosis. At 16m still unable to sit unaided and now had gaiters for his legs. Feeding problems after birth and was fed via an NG tube until 1y when a gastrosomy PEG was introduced. At 15m weight 7.22kg. | ||||||||
| 20- Uu- 2 |
male/ 1m |
PBL | de novo | 47,XY,+mar[20]/ 46,XY[28] |
min(20)(:p11.1→q11.1:) maternal UPD 20 |
midi; UPD-test | growth retardation; minor facial DYS; hyperactive; mother at age of conception 40y; IUGR | {3, 58} |
| 20- Uu- 3 |
male/ 1m |
PBL | de novo | 47,XY,+mar[13]/ 46,XY[7] |
mar(20)(p12.2q11.21) aCGH: 10.61-29.64 Mb UPD(20)mat |
aCGH | DYS, DD, cleft palate, growth retardation, frontal bossing | {66} |