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-
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
|
|