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- CHROMOSOME #19 -
UNCLEAR
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- U- 1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[45]/ 46,XX[10] |
min(19)(:p12→q13.1:) | M-FISH; cenM; MCB |
AMA; no ultrasound abnormalities;TOP | {1} case 28 |
| 19- U- 2 |
male/ prenatal |
AF | de novo | 47,XY,+mar[38]/ 46,XY[17] |
r(19)(::p13.11→ q13.11-12::)[16]/ r(19;19)(::p13.11→ q13.11-12: :p13.11→q13.11~ 12::)[2]/ min(19)(:p13.11→ q13.11-12:)[5] |
cenM; subcenM |
AMA; no ultrasound abnormalities in week 15; spontaneous abortion after amniocentesis | {0} provided by Dr. Mazauric, Düsseldorf, Germany |
| 19- U- 3 |
male/ prenatal |
AF | de novo? | 47,XY,+mar[100%] | r(19)(::p12→q12::) | midi | n.a. | {9} case 4 |
| 19- U- 4 |
male/ prenatal |
AF | de novo | 47,XY,+r[17%]/ 46,XY[83%] |
r(19) | centromeric probes and wcp | TOP; autopsy result normal | {10} case 5 |
| 19- U- 5 |
female/ prenatal |
AF | de novo | 47,XX,+mar[10%]/ 46,XX[90%] |
min(19)(:p13.11→q12:) | cenM; subcenM | AMA; no ultrasound abnormalities; TOP - no additional information available | {0} provided by Dr. Klein, Butzbach, Germany |
| 19- U- 6 |
male/ prenatal |
AF | de novo | 47,XY,dup(21)(q22.2q21.1),+r[18]/ 46,XY,dup(21)(q22.2q21.1)[32] |
r(19)(::p13.11→q13.2::)* sSMC derived from a maternal chromosome 19 |
different FISH probes, micro satellite analysis; UPD-test | see below | {8} case 3 {42} |
| AMA; Baby born by cesarean section at 40th week without complications, with hypotonia, dysmorphic craniofacial features including microcephaly, hypertelorism, upward slanting palpebral fissures, deep palmar and plantar crease; delayed myelinisation, psychomotor development moderately delayed at 9m. No Down syndrome features, which is in concordance with the lack of the DSCR. | ||||||||
| 19- U- 7 |
female/ prenatal |
AF, PBL (EKF- cellbank) |
de novo | 47,XX,+mar[10]/ 46,XX[30] |
min(19)(:p13.11→q12:) FISH-data: 26.7-at least to 33.3MB |
cenM; subcenM; UPD-test | see below | {23} case 13 |
| possible hypotrophy in US, parents 31y and non-consanguineous. Already one healthy 4 y old girl. Amniocentesis due to abnormal maternal screening (1/100); TOP, no autopsy but fetus without abnormalities | ||||||||
| 19- U- 8 |
n.a./ prenatal |
AF | de novo | 47,+mar[100%] | r(19) | M-FISH; wcp 19 | abnormal in 1st ultrasound. hydramnios | {21} case 4 |
| 19- U- 9 |
n.a./ prenatal |
AF | de novo | 47,+mar[100%] | r(19) | M-FISH; wcp 19 | maternal serum screen test; TOP | {21} case 12 |
| 19- U- 10 |
male/ prenatal |
chord blood | de novo | 47,XY,+mar[28]/ 46,XY[4] |
r(19)(::p13.1→q13.1::)[17]/ r(19;19)(::p13.1→q13.1: :p13.1→q13.1::)[4] FISH-data: breaks between 10.61-22.66 and 48.31-57.56 MB |
M-FISH; subcenM, PCL-FISH | enhanced nuchal translucency, TOP | {50} case 20 |
| 19- U- 11 |
female/ prenatal |
AF | de novo | 47,XY,+mar[34%]/ 46,XY[66%] |
r(19)(::p11.1→q12::) | M-FISH; subcenM; UPD-test | AMA, patient lost during follow up | {0} provided by Drs. Wagner and Stibbe, Hannover, Germany |
| 19- U- 12 |
female/ prenatal |
AF | de novo | 47,XY,+mar[40%]/ 46,XY[60%] |
min(19)(:p11.1→q13.1~ 13.2:)[16]/ r(19)(::p11.1→q13.1~ 13.2::)[8]/ r(19;19)(::p11.1→q13.1~13.2: :p11.1→q13.1~13.2::)[1] |
cenM-FISH; subcenM | AMA, patient lost during follow up | {0} provided by Drs. Wagner and Stibbe, Hannover, Germany |
| 19- U- 13 |
n.a./ prenatal |
AF | n.a. | 47,+mar[17%]/ 46[83%] |
r(19) | wcp19; cep19 | AMA. no further information available TOP | {37} case 13 |
| 19- U- 14 |
n.a./ prenatal |
AF | n.a. | 47,+mar[60%]/ 46[40%] |
min(19)(:p12→q13.1:) aCGH: 24.08-40.50 |
wcp19;
cep19, subcenM; aCGH |
n.a. | n.a. |
| 19- U- 15 |
see 19-Uc-1 | |||||||
| 19- U- 16 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | min(19)(:p13.11→q11:) | cenM, subcenM | n.a. | {0} provided by Dr. Alves, Porto, Portugal |
| 19- U- 17 |
n.a./ prenatal |
AF | n.a. | 47,+mar[100%] | min(19)(:p12→q12:) aCGH: 33.10-33.59 |
cenM;
subcenM; aCGH |
AMA; no US abnormalities. No further info available | {0} provided by Dr. Eiben, Oberhausen, Germany |
| 19- U- 18 |
female/ prenatal |
AF | n.a. | 47,+mar[?100%] | mar(19) | SKY | n.a. | {48} case F0534481 |
| 19- U- 19 |
male/ prenatal |
AF | de novo | 47,XY,+mar[56]/ 46,XY[47] |
mar(19)(p1?2→q13.11) aCGH: 32.54-37.60 |
aCGH | normal sonography, TOP | {49} |
| 19- U- 20 |
see 19-Ud-3 | |||||||
| 19- U- 21 |
male/ 9y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[5]/ 46,XY[50] |
min(19)(:p12→q12:) | cep; subcenM | n.a. | GGB0358M, 2236; provided by Teleton foundation, Italy |
| 19- U- 22 |
male/ prenatal |
CH; AF | n.a. | CH:
47,XY,+mar[10%]/ 46,XY[90%] AF: 20% |
min(19)(:p12→q13.2:) aCGH (hg19) break in 19 q: 42,723,970 |
aCGH subcenM |
AMA, TOP | {0} provided from Greece |
| 19- U- 23 |
male/ prenatal |
AF | de novo |
47,XY,+mar[5]/ 46,XY[26] |
min(19)(:p13.11→q11:) arr[GRCh37] 19p13.11p12(16,897,821_ 24,340,741)x2~3 |
aCGH subcenM |
AMA | {0}
provided from Ingelheim, Germany |
| 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- Uc- 1 |
female/ postnatal |
PBL | n.a. | 47,XX,+mar[?%] | der(19)t(18;19) | aCGH | psychomotor disorder | {39} 1
case {54} |
| 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- Ud- 1 |
male/ prenatal |
AF; PBL |
de novo | 47,XY,+mar[100%] | min(19)(pter→p13.3: :19p13.1→19q13.1:)* | WCP multiprobe device; midi; subtel 19 | see below | {38} case 2 |
| Born by cesarean section at 37 weeks gestation as twin B of a dichorionic, diamniotic pregnancy. Twin A was a healthy male; 46,XY. The pregnancy was complicated by gestational diabetes, and ultrasound diagnosis of a left diaphragmatic hernia, probable ventricular septal defect, and small lung volume. APGAR scores were 4, 6,and 5. Birth weight 2,300 g (10th centile). Potsnatal: severe hypoxemia secondary to the diaphragmatic hernia. Echocardiogram: patent foramen ovale and tricuspid regurgitation. Abdominal ultrasound: rotated, echogenic right kidney and ectopic left kidney. Vision and hearing evaluations were normal. Other complications in the newborn period included placement of a G-tube and Nissen fundoplication for feeding aversion problems, laparoscopic repair of a small bowel obstruction, and frenotomy for treatment of tongue tie. At eight months: interactive child with microcephaly and significant delays in development. Height 62.5 cm (<3rd centile), weight 5.9 kg (<3rd centile), head circumference 39.75 cm (<3rd centile); central hypotonia, midface hypoplasia, and protuberant ears. At 2 years cognitive skills at approximately the 12-month level and motor skills at the 10-month level. Height 74.5 cm (<3rd centile), weight 9.4 kg (~3rd centile), head circumference 43.5cm(<3rd centile); moderate thoracic scoliosis and central hypotonia; still exhibited significant feeding aversion. | ||||||||
| 19- Ud- 2 |
male/ postnatal |
PBL | de novo | 47,XX,+mar[30] | der(19)(:p11→q11::q12→q13.2: :q13.2→q13.31:) aCGH: 30.74-36.12 and 42.89-43.92 |
aCGH | autsim, DD, DYS, obesity, friendly personality | {51} case 8 |
| 19- Ud- 3 |
male/ newborn |
PBL | de novo | 47,XY,+mar[20] | min(19)(qter→q13.43: :p13.12→q13.2::q13.42→qter) or min(19)(qter→q13.42: :p13.12→q13.2::q13.43→qter) |
aCGH, FISH (subtel 19qter, wcp 19) | see below | {0} provided by L. Fairbrother, Florida, USA |
| facial abnormalities (incl. short philturm, palpebral fissures, simple proruding ears, blunted nose, microcephaly), cataracts, short stature, hypoplasti nipples and nails, single right kidney, undescended testes, imporferate anus, quattate psoriasis, VSD and PDA (self resolved), mental retardation, developmental delay, walk at 7 y without assistance and some receptove language | ||||||||
| 19- Ud- 4 |
male/ prenatal |
AF | de novo | 47,XY,+r[12]/ 46,XY[8] |
neither
given as karyotype nor as molecuar data; Figure states 5 regions of 19p13.3 to 19q12 with segmental duplications |
FISH, aCGH, NGS | AMA | {63} case 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- Uu- 1 |
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