ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 16 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 16
 		UPD PATERNAL
 CHR . 16
UPD-cases without clinical findings
+ normal karyotype		 UPD-cases with or unclear clinical
correlation + normal karyotype
UPD-cases without clinical findings
+ balanced karyotype 		UPD-cases with or unclear clinical
correlation + balanced karyotype
UPD-cases without clinical findings
+ sSMC 		UPD-cases with or unclear clinical
correlation + sSMC
segmental UPD-cases without
clinical findings		 segmental UPD-cases with or
unclear clinical correlation
UPD-cases without clinical findings
+ other imbalances 		UPD-cases with or unclear clinical
correlation + other imbalances
References


mat UPD-cases without clinical findings + normal karyotype

See {1082} - here most frequent was UPD(16)mat in healthy persons
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
16-
OmU-N/
1-1
 n.a. prenatal
 AF n.a. normal at birth
 {1722} case 80

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
16-
OmU-N/
mos/
1-1
 - - - - - -


mat UPD-cases without clinical findings + balanced karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
16-
OmU-bal/
1-1
 - - - - - -


mat UPD-cases without clinical findings + sSMC

case no.
 case no. in sSMC database
 gender/
age at diagnosis
 studied
material
 GTG-banding result
 final FISH result of the sSMC
 FISH
methods
 clinical symptoms
 reference
16-
OmU-sSMC/
1-1
 - - - - - - - -


segmental mat UPD-cases without clinical findings

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
16-
OmU-seg/
16pter~p12.3/
1-1
 n.a. n.a. AF 46,XN
---
16pter-p12.3
only SNP-array done
 normal child born {1417} case 19

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
16-
OmU-seg/
/
mos/
1-1
 - - - - - -


mat UPD-cases without clinical findings + other imbalances

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
16-
OmU-imb/
1-1
 n.a.
 prenatal
 Ch; PBL
 Ch: 47,XX,rob(13;14),+16[100%]
PBL at 2.5 years
46,XX,rob(13;14)
 normal child at almost 2 years
 {963} case 2
16-
OmU-imb/
1-1
 n.a.
 prenatal PBL
 46,XN,+16
acc. to NIPT
 normal child born
 {1389} case 125
16-
OmU-imb/
1-2
 n.a.
 prenatal AF
 46,XN,+16
acc. to NIPT
 IUGR
Normal at 2y
 {1722} case 48

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
16-
OmU-imb/
mos/
1-1
 - - - - - -


mat UPD-cases with or unclear clinical correlation + normal karyotype
for thoughts about UPD(16) see Ref 993 and 1144
Also in study {1082} not included in this page due to lack of clinical data found UPD(16) in 40/205 cases
-> i.e. 19.5%; if true this would not support suggesting imprinting genes on chromsome 16.

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
16-
WmU-N/
1-1
 female
 prenatal
 placenta/ missed abortion
 46,XX
 missed abortion
 {237} case 18
16-
WmU-N/
1-2 to 1-3
 n.a.
 prenatal
 AF
 n.a.
 n.a.
 {1705} cases 8
 and 20
16-
WmU-N/
2-1
 male
 prenatal
 AF , CH
 46,XY
 IUGR
 {251} case 3
16-
WmU-N/
2-2
 n.a.
 postnatal
 PBL
 n.a.
 IUGR ??
 {301} 1 case
16-
WmU-N/
2-3
 n.a.
 prenatal
 AF
 n.a.
 IUGR; Bart's hydrops fetalis
 {373}
16-
WmU-N/
2-4
 n.a.
 postnatal
 PBL
 n.a.
 IUGR, transient neonatal hypoglycemia and cholestasis
 {847}
16-
WmU-N/
2-5
 n.a.
 prenatal
 AF
 n.a.
 IUGR
 {1211} 1 case
16-
WmU-N/
2-6
 female
 prenatal
 AF
 46,XX
 IUGR; Bart's hydrops fetalis
 {1334}
16-
WmU-N/
2-7
 n.a.
 postnatal
 PBL
 n.a.
 abnormal, no gene identifeed
 {1340} case P14
16-
WmU-N/
3-1
 male
 postnatal
 PBL
 n.a.
 no IUGR; Malonyl-CoA decarboxylase deficiency (gene MLYCD in 16q23.3)
 {254}
16-
WmU-N/
4-1
 n.a.
 postnatal
 PBL
 n.a.
 no IUGR; macular corneal dystrophy (gene CHST6 in 16q23.1)
 {503}
16-
WmU-N/
5-1
 male
 prenatal
 AF
 46,XY
 single umbilical arteria, single kidney, abnormal genital. IUGR. iUPD but no gene detected
 {573} case 21
16-
WmU-N/
6-1
 female
 postnatal
 AF; PBL
 46,XX
 no IUGR; adenine phosphoribosyltransferase deficiency (gene APRT in 16q24.3)
 {632}
16-
WmU-N/
7-1
 n.a.
 postnatal
 PBL
 n.a.
 no IUGR; mucopolysaccharidosis IVA (gene GALNS in 16q24.3)
 {659}
16-
WmU-N/
8-1
 n.a.
 prenatal
 AF
 n.a.
 no IUGR; alpha thalassemia (gene HBA1 or HBA2 in 16p13.3)
 {775} case 1
16-
WmU-N/
8-2
 n.a.
 prenatal
 AF
 46,XN
 Hb Barts Disease (gene HBA1 or HBA2 in 16p13.3)
 {926}
16-
WmU-N/
8-3
 n.a.
 prenatal
 AF
 n.a.
 Hb Bronovo (gene HBA2 in 16p13.3)
 {1257}
16-
WmU-N/
8-4
 n.a.
 postnatal
 PBL
 n.a.
 Hb H disease (gene  HBA2 in 16p13.3)
 {1571} 1 case
16-
WmU-N/
9-1
 female
 18y
 PBL
 n.a.
 no IUGR; Giant axonal neuropathy (gene GAN1 in 16q23.2)
 {822}
16-
WmU-N/
9-2 to 9-3
 n.a.
 postnatal
 PBL
 n.a.
 Giant axonal neuropathy (gene GAN1 in 16q23.2)
 {1367} 2 cases
16-
WmU-N/
10-1
 female
 6y
 PBL
 46,XX congenital disorder of glycosylation type Ia (gene PMM2 in 16p13.2)
 {1237}
16-
WmU-N/
10-2
 male
 postnatal
 PBL
 n.a. congenital disorder of glycosylation type Ia (gene PMM2 in 16p13.2)
 {1238}
16-
WmU-N/
11-1 to 11-2
 male
16y, 10y
 PBL
 n.a.
 Fanconi anemia
(gene FANCA in 16q24.3)
 {937} cases 2-3
16-
WmU-N/
12-1
 female
 2y
 PBL
 n.a.
 Fanconi anemia
(gene FANCP/SLX4 in 16p13.3)
 {937} case 4
16-
WmU-N/
13-1 to 13-2
 female and male
 6 and 9 y
 PBL
 n.a.
 no IUGR; Hereditary spastic paraplegias (gene FA2H in 16q23.1)
 {956} 2 cases
16-
WmU-N/
14-1
 male
 6y
 PBL
 n.a.
 Mainzer-Saldino syndrome (gene IFT140 in 16p13)
 {1044}
16-
WmU-N/
15-1 to 15-4
 n.a.
 n.a.
 n.a.
 n.a.
 n.a.
 {982}
16-
WmU-N/
15-5 to 15-6
 n.a.
 n.a.
 n.a.
 n.a.
 n.a.
 {1694} 2 cases
16-
WmU-N/
16-1
 n.a.
 n.a.
 PBL
 n.a.
 Chronic granulomatous disease (gene CYBA in 16q24.3)
{1048}
16-
WmU-N/
17-1 to 17-2
 n.a.
 postnatal
 PBL
 n.a.
 details n.a.
found in a cohort of children with inborn heart disease heterodisomy
 {1066} 2 cases
16-
WmU-N/
18-1
 female
 newborn
 PBL
 n.a.
 early-onset epileptic encephalopathy (gene TBC1D24 in 16p13.3)
{1086}
16-
WmU-N/
19-1
 n.a.
 postnatal
 PBL
 n.a.
 Silver-Russel-syndrome like
{1027}
16-
WmU-N/
19-2 to 19-3
 1 male
1 female
 		postnatal
 PBL
 n.a.
no activation of a recess. gene mutation acc. to WES
 Silver-Russel-syndrome like
{1111; 1266}
16-
WmU-N/
19-4 to 19-7
 n.a.
 		postnatal
 PBL
 n.a.
 Silver-Russel-syndrome like
{1605} 4 cases
16-
WmU-N/
20-1
 female
 6y
 PBL
 n.a.
 early infantile-onset epileptic encephaopathy 28 (gene WWOX in 16q23.1-q23.2) {1116}
16-
WmU-N/
20-2
 female
 ~2y
 PBL
 n.a.
 early infantile-onset epileptic encephaopathy 28 (gene WWOX in 16q23.1-q23.2) {1533}
16-
WmU-N/
21-1
 male
 ~1y
 PBL
 n.a.
 THOC6 related intellectual disability (gene THOC6 in 16p13.3) {1126}
16-
WmU-N/
22-1
 female
 prenatal
 AF
 46,XX
 short femur and TOP {1155}
16-
WmU-N/
23-1
 n.a.
 postnatal
 PBL
 n.a. Esophagus atresia, tracheoesophageal fistula,
aortic stenosis 		{1213} case V7
16-
WmU-N/
24-1
 n.a.
 prenatal
 AF
 n.a. IUGR, TOP {1221} case 57
16-
WmU-N/
25-1
 female
 31y
 PBL
 n.a. neuronal ceroid lipofuscinosis  (gene CLN3 in 16p12.1) {1453}
16-
WmU-N/
26-1
 female
 4m
 PBL
 n.a.
 pontocerebellar hypoplasia type 8 (gene CHMP1A in 16q24.3)
only iUPD tested and suggestd it is segmental...
 		{1458}
16-
WmU-N/
27-1 		n.a.
 postnatal
 PBL
 n.a.
 multicystic dysplastic kidney
 (no gene identified)
 {1479} case 13
16-
WmU-N/
28-1 		female
 postnatal
 PBL
 n.a.
 combined oxidative phosphorylation deficiency
 (MRPS34 gene 16p13.3)
 {1525}
16-
WmU-N/
29-1 		female
 prenatal
 AF
 46,XX DYS
 (no gene identified)
TOP
 		{1528} case 21
16-
WmU-N/
30-1 to 30-5 		n.a.
 prenatal
 AF
 n.a. n.a.
 		{1604} cases 10, 13-16 in App. 2
16-
WmU-N/
31-1 		female 20y
 PBL
 n.a. Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon–Holmes Syndrome gene
 (STUB1  gene 16p13.3) 		{1717}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
16-
WmU-N/
mos/
1-1 		-
 -
 -
 -
 -
 -


mat UPD-cases with or unclear clinical correlation+ balanced karyotype

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
16-
WmU-bal/
1-1 		-
 -
 -
 -
 -
 -


mat UPD-cases with or unclear clinical findings + sSMC

case no.
 case no. in sSMC database
 gender/
age at diagnosis
 studied
material
 GTG-banding result
 final FISH result of the sSMC
 FISH
methods
 clinical symptoms
 reference
16-
WmU-sSMC/
1-1
 16-W-
p11.1/
3-1
 male/
prenatal
 AF
 47,XY,+mar[27]/
46,XY[5]
 r(16)(::p11.1→q11.2::)
 cenM, subcenM
 Dandy Walker Cyst and brainmalformations; TOP
 {0} case provided by Drs. Prager and Junge (Dresden, Germany)
16-
WmU-sSMC/
2-1
 16-O-
p11.21/
1-1
 male/
prenatal
 AF
 47,inv(X)(p11.4p22.3)Y,
+mar[18]/
46,inv(X)(p11.4p22.3)Y[7]
 min(16)(:p11.21→q11.1:)
FISH-data: RP11-67I10 (26.11) on sSMC
 cenM; subcenM
 see below
 {432}
AMA; spontaneous birth in week 39 of gestation; Apgar ?/10(10, weight 2960g; apart from posterior plagiocephaly no indication for malformations; IUGR?


segmental mat UPD-cases with or unclear clinical correlation

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
16-
WmU-seg/
pter/
1-1
 female
 n.a.
 PBL
 n.a.
---
16pter to 16p13.13
 congenital disorder of glycosylation type Ia (gene PMM2 in 16p13.2)
 {651} case 3; {1238}
16-
WmU-seg/
pter/
2-1
 n.a. prenatal
 AF
 n.a.
---
16pter to 16p12.2
 n.a.
 {1705} case 91

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
16-
WmU-seg/
pter/
mos/
1-1 		-
 -
 -
 -
 -
 -


mat UPD-cases with or unclear clinical correlation + other imbalances

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
16-
WmU-imb/
1-1
 n.a.
 newborn
 placenta and PBL
 placenta: 47,+16[100%]
PBL: 46[100%]
 IUGR {49} case 3
16-
WmU-imb/
1-2
 n.a.
 newborn
 placenta and AF
 placenta : 47,+16[100%]
AF: 46[100%]
 IUGR {49} case 4
16-
WmU-imb/
1-3
 female
 prenatal
 placenta and fetal tissues
 CH; and at birth: 47,XX,+16[34]/46,XX[14]
fetal tissues: 46,XX[100%]
 IUGR, TOP
 {49} case 1; {50} case 1;
{52} case 7
16-
WmU-imb/
1-4
 male
 newborn
 CH and PBL
 CH; and at birth: 47,XY,+16[8]/46,XY[20]
 IUGR
 {49} case 2; {50} case 2;
{52} case 16
16-
WmU-imb/
1-5
 male
 newborn
 placenta
PBL
 placenta at birth: 47,XY,+16[283]/46,XY[244]
PBL: 46,XY[100%]
 IUGR, multiple DYS, died at 20 weeks
 {49} case 5; {51}
16-
WmU-imb/
1-7
 female
 prenatal
 AF
 47,XX,+16/46,XX
 IUGR, DYS {91}
16-
WmU-imb/
1-8
 female
 prenatal
 AF
 47,XX,+16/46,XX
 IUGR, DYS, others
 {92}
16-
WmU-imb/
1-9
to 14
 n.a.
 prenatal
 AF/CH;
placenta
 47,+16/46 in CH and or placenta
 IUGR {53} cases, 1 2, 4, 5, 8, 9; = {86} cases n.a. 91.14, CPM92.25, n.a. , n.a. , 92.49
16-
WmU-imb/
1-15
 female
 prenatal
 CH
 47,XX,+16/46,XX
 fetal death in week 20
 {53; 85} case 1; {86} case CPM16-8
16-
WmU-imb/
1-16
 male
 prenatal
 AF
 47,XY,+16[1]/46,XY[25]
 IUGR; postnatal growth retardation
 {56}
16-
WmU-imb/
1-17
 male
 prenatal
 AF
 47,XY,+16[5]/46,XY[25]
 IUGR; TOP
 {57} case 1
16-
WmU-imb/
1-18
 n.a.
 postnatal
 n.a.
 n.a.
 n.a. paternity testing
 {83}
16-
WmU-imb/
1-20
 female
 prenatal
 CH
 47,XX,+16/46,XX
 IUGR; inguinal hernia
 {87}
16-
WmU-imb/
1-21
 female
 prenatal
 CH
 47,XX,+16/46,XX
 IUGR; unilateral talipes
 {88}
16-
WmU-imb/
1-22
 female
 prenatal
 CH
 47,XX,+16/46,XX
 IUGR; ASD, VSD
 {89}
16-
WmU-imb/
1-23 to 1- 25
 n.a.
 prenatal
 CH
 47,+16/46
 IUGR
 {86} cases 93.94, 95.28, 93.43
16-
WmU-imb/
1-26
 female
 prenatal
 CH
 47,XX,+16/46,XX
 IUGR; unilateral talipes, mild facial abnormities
 {90}
16-
WmU-imb/
1-27
 female
 prenatal
 AF
 47,XX,+16/46,XX
 IUGR; DYS, others, TOP
 {94} case XIV-2
16-
WmU-imb/
1-28
 male
 prenatal
 AF
 47,XX,+16/46,XX
 IUGR; hypospadia
 {94} case XIV-11
16-
WmU-imb/
1-29 to 1-30
 n.a.
 prenatal
 AF
 47,+16/46
 n.a.
 {86} cases 96.32 and 94.50
16-
WmU-imb/
1-31
 n.a.
 prenatal
 placenta, AF
 placenta: 47,+16
AF: 46
 body stalk anomaly
 {132}
16-
WmU-imb/
1-32
 n.a.
 prenatal
 placenta, AF
 placenta: 47,+16
AF: 46
 DYS; TOP
 {186}
16-
WmU-imb/
1-33
 male
 prenatal
 placenta, AF
 placenta: 47,+16
AF: 46
 IUGR
 {194} 1 case
16-
WmU-imb/
1-34 to 1-36
 n.a.
 prenatal
 placenta, AF
 placenta: 47,+16
AF: 46
 IUGR
 {220} cases 1, 7, 10
16-
WmU-imb/
1-37
 female
 prenatal
 CH, AF
 CH: 47,XX,+16
AF: 46,XX
 slight IUGR
 {251} case 2; {252}case 17
16-
WmU-imb/
1-38 to 1- 44
 male and female
 prenatal
 CH, AF
 CH: 47,+16
AF: 46
 IUGR
 {306} 7 cases
16-
WmU-imb/
1-45
 male
 prenatal
 CH, AF, PBL
 CH: 47,XX,+16/46,XX
AF: 47,XX,+16/46,XX
 IUGR
 {320}
16-
WmU-imb/
1-46
 female
 prenatal
 CH, AF
 CH: 47,XX,+16/46,XX
AF: 46,XX
 IUGR, TOP
 {334}
16-
WmU-imb/
1-47
 n.a.
 prenatal
 CH, AF
 CH: 47,XX,+16/46,XX
AF: 46,XX
 IUGR, TOP
 {398}
16-
WmU-imb/
1-48
 male
 prenatal
 AF
 AF: 47,XY,+16/46,XY
 IUGR; mentally normal
 {472}
16-
WmU-imb/
1-49
 female
 prenatal
 AF; placenta
 AF: 46,XX
placenta: 47,XX,+16/46,XX
 IUGR; TOP
 {520}
16-
WmU-imb/
1-50 to 1-52
 1x female
2x male
 prenatal
 AF; placenta
 placenta: 47,+16/46
 IUGR (1x TOP)
 {556} cases 33-35
16-
WmU-imb/
1-53
 n.a.
 prenatal
 CH
 47,+16/46
 n.a.
 {619} case 33
16-
WmU-imb/
1-54
 female
 prenatal
 AF
 AF: 46,XX[44]
iFISH:47,XX,+16[2]/46,XX[48]
short femora and reverse flow in the ductus venosus
 {963}
cse 1
16-
WmU-imb/
1-55
 n.a.
 prenatal
 CH; AF
 AF: 46,XX[90]
CH: 47,XX,+16[26]
 IUGR; lost during follow-up
 {963}
case 3
16-
WmU-imb/
1-56
 n.a.
 prenatal
 AF
 47,XN,+16 (mosaic)
 IUGR
 {1312}
1 case
16-
WmU-imb/
1-57
 female
 prenatal
 AF
 47,XX,+16 (mosaic~20%)
 IUGR
 {1318}
16-
WmU-imb/
1-58 to 1-59
 n.a.
 prenatal PBL
 47,XN,+16
acc. to NIPT
 TOP
 {1389} cases 124 and 126
16-
WmU-imb/
1-60
 n.a.
 prenatal PBL
AF
 47,XN,+16
acc. to NIPT
 TOP
 {1419}
16-
WmU-imb/
1-61
 n.a.
 prenatal PBL
AF
 47,XN,+16
acc. to NIPT
 n.a.
 {1486} case 25
16-
WmU-imb/
1-62 to 1-63
 female
 prenatal AF
 47,XX,+16
acc. to NIPT
46,XX in AF
 TOP {1528} cases 27 and 28
16-
WmU-imb/
1-64
 n.a.
 prenatal AF
 47,XN,+16
TOP {1541} case 1
16-
WmU-imb/
1-65 to 1-66
 n.a.
 prenatal AF
 47,XN,+16 acc. to NIPT
n.a. {1604} cases 11 and 12 in App. 2
16-
WmU-imb/
1-67
 n.a.
 prenatal AF
 47,XN,+16 [10%]
 n.a. {0 - 10022025 }
16-
WmU-imb/
2-1
 n.a.
 prenatal
 CH, AF
 CH: 48,+8,+16/47,+16
 IUGR, TOP
 {306} case 93.48
16-
WmU-imb/
3-1
 n.a.
 prenatal
 CH
 CH: 47,XXY/46,XX
in normal cell line mat UPD 16 and mat UPD X
 IUGR, TOP
 {Reference unclear}
16-
WmU-imb/
4-1
 male
 newborn
 PBL
 46,XY,der(1)t(1;16)(p36.6;p13.1)/46.XY
segmental UPD 16q
 newborn with facial DYS and trus hermaphroditism
 {527}
16-
WmU-imb/
5-1
 male
 newborn
 PBL
 46,XY,t(10;16)(q11.2;q11.1)mat[22]/47,idem,+16[4]
UPD 16 in cells with 46 chromosomes
 IUGR and postnatal some minor abnormalities
 {371}
16-
WmU-imb/
6-1
 n.a.
 prenatal AF
 de novo mosaic 4p12p11 duplication in 68% of cells
and UPD 16
 		fetal central nervous system anomalies; TOP
 {1570} case 16
16-
WmU-imb/
7-1
 n.a.
 prenatal AF
 47,XN,+16 [3%] IUGR, TOP and gene TBC1D24 in 16p13.3 {1636}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 clinical symptoms
 reference
16-
WmU-imb/
mos/
1-1 		n.a.
 prenatal PBL
AF
 46,XN,+16
acc. to NIPT
mosaic UPD - due to 2x trisomic recue
 n.a.
 {1486} case 24