ChromosOmics - Database

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                                                  -  CHROMOSOME #19 -                                                 
UNCLEAR
 
Cases without clinical findings
 Similar imbalances – no sSMC
Cases with clinical findings
 		Similar imbalances – no sSMC
Cases without clear clinical correlation
 Cases with discontinous sSMC
Cases with complex sSMC
 Cases with UPD and sSMC
Cases with neocentromeres
 Similar imbalances - no sSMC
Tumor
 DISCLAIMER
In general 70% of sSMC carriers are clinically normal. The figures listed above

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

Cases with unclear clinical correlation (U)


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 from 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 from 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 from 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 from 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 from 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 from 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 Germany
19-
U-
24		 female/
prenatal		 AF n.a.
 47,XX,+mar[12]/
46,XX[8]		 min(19)(:p12→q12:) cenM
subcenM		 AMA {0} provided from Germany

Cases with complex sSMC (Uc)

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}

Cases with discontinous sSMC (Ud)

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 from 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

Cases with UPD (Uu)

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 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-