ChromosOmics - Database

                                                     - 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
grade of mosaicism

clinical symptoms
reference
16-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

clinical symptoms
reference
16-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

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
grade of
mosaicism

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

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

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
grade of mosaicism

clinical symptoms
reference
16-
WmU-N/
1-1
female
prenatal
placenta/ missed abortion
46,XX
missed abortion
{237} case 18
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 either 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 either HBA2 in 16p13.3)
{1257}
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/
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/
20-1

female
6y
PBL
n.a.
early infantile-onset epileptic encephaopathy 28 (gene WWOX in 16q23.1-q23.2) {1116}
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.
pretnatal
AF
n.a. IUGR, TOP {1221} case 57

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
 mosaicism

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
grade of mosaicism

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
grade of mosaicism

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)(::p11.1q11.2::)
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)(:p11.21q11.1:)
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
grade of mosaicism

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}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
 mosaicism

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
grade of
 mosaicism

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/
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
{306} case 93.48
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}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
 mosaicism

clinical symptoms
reference
16-
WmU-imb/
mos/

1-1
-
-
-
-
-
-