ChromosOmics - Database


Icon by Leon Liehr              

                                                     - CHROMOSOME 1 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 1
 		UPD PATERNAL
 CHR . 1
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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
OmU-N/
1-1
 n.a.
 childhood
 PBL
 46,XN
 diabetes melitus in both children and in mother; apart from that both children normal - diabetes not from UPD 1
 {47}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
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
01-
 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
01-
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
01-
OmU-seg/
/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
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
01-
OmU-imb/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
OmU-imb/
mos/
1-1
 - - - - - -


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
WmU-N/
1-1
 female
 newborn
 PBL
 46,XX
 Zellweger syndrome (gene PEX10 in 1p36.32)
 {34}
01-
WmU-N/
2-1
 male
 newborn
 PBL
 46,XY
 Herlitz junctional epidermolysis bullosa (gene LAMB3 in 1q32.2)
 {36}
01-
WmU-N/
3-1
 male
 6y
 PBL
 46,XY
 Chediak-Higashi syndrome (gene LYST in 1q42.3)
 {45}
01-
WmU-N/
3-2
 female
 3y
 PBL
 46,XX
 Chediak-Higashi syndrome (gene LYST in 1q42.3) seg-iUPD but hetUPD not tested
 {1285}
01-
WmU-N/
4-1
 male
 newborn
 PBL
 46,XY
 Maple syrup urine disease type 2 (gene MSUD2 in 1p21.2)
 {46}
01-
WmU-N/
5-1
 male
 9y
 PBL
 46,XY
 autism (gene n.d.)
 {48}
01-
WmU-N/
6-1
 female
 newborn
 PBL
 46,XX
 Herlitz junctional epidermolysis bullosa (gene LAMC2 in 1q25.3)
 {499}
01-
WmU-N/
7-1
 n.a.
 10m
 PBL
 n.a.
 CD45-deficient severe combined immunodeficiency (gene CD45 = PTPRC in 1q31.3)
 {684}
01-
WmU-N/
8-1
 female
 newborn
 PBL
 n.a.
 T-cell immunodeficiency (gene LCK in 1p35.2)
 {698}
01-
WmU-N/
9-1
 n.a.
 postnatal
 PBL
 n.a.
 Hereditary pyropoikilocytosis (gene SPTA1 in 1q23.1)
 {772}
01-
WmU-N/
9-3
 female
 2y
 PBL
 n.a.
 Hereditary pyropoikilocytosis (gene SPTA1 in 1q23.1)
 {838}
01-
WmU-N/
10-1
 male
 2y
 PBL
 n.a.
 Mandibuloacral dysplasia (gene LMNA in 1q22)
 {787}
01-
WmU-N/
11-1
 male
 newborn
 PBL
 n.a.
 infantile hypophosphatasia (gene ALPL in 1p36.12)
 {869}
01-
WmU-N/
12-1
 n.a.
 postnatal
 PBL
 n.a.
 permanent neonatal diabetes mellitus - PNDM
(gene SLC19A2 in 1q24.2)
 {1047}
01-
WmU-N/
12-2
 female
 3.5y
 PBL
 n.a.
 diabetes
severe anemia, acupoint-size bleeding spots, and a few ecchymoses all over her body, as well as astigmatism and hyperopia (gene SLC19A2 in 1q24.2)
 {1307}
01-
WmU-N/
13-1
 male
 postnatal; ?child
 PBL
 n.a.
 Usher syndrome
(gene USH2A in 1q41)
 {1232}
01-
WmU-N/
14-1
 female
 postnatal; ?child
 PBL
 46,XX
 congenital adrenal hyperplasia and Bartter syndrome
(gene HSD3B2  in 1p12 and CLCNKB in 1p36.13) 		{1254}
01-
WmU-N/
15-1
 male
 postnatal; ?child
 PBL
 n.a.
 autosomal recessive cerebellar ataxia
(gene ADCK3 = COQ8A  in 1q42.13) 		{1345} 1 case
01-
WmU-N/
16-1
 male
 7y
 PBL
 n.a.
 epileptic disorder
(gene CNTN2  in 1q32.1) 		{1347}
01-
WmU-N/
17-1
 n.a.
 postnatal
 PBL
 n.a.
 iUPD
(gene not identified) 		{1340} case P1
01-
WmU-N/
18-1
 n.a.
 postnatal
 PBL
 n.a.
 neurogenetic disorder
(gene KCTD3  in 1q41) 		{1340} case P4
01-
WmU-N/
19-1
 n.a.
 postnatal
 PBL
 n.a.
 Greenberg dysplasia or Pelger-Huet Anomaly with mild skeletal anomalies
(gene LBR in 1q42.12) 		{1340} case P5
01-
WmU-N/
20-1
 male
 postnatal
 PBL
 n.a.
  Leber Congenital Amaurosis (gene RPE65 in 1p31.3) {1362}
01-
WmU-N/
20-2
 n.a.
 postnatal
 PBL
 n.a.
  Leber Congenital Amaurosis (gene RPE65 in 1p31.3) {1510} case 19
01-
WmU-N/
21-1
 n.a. postnatal
 PBL
 n.a. craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) (gene TMCO1  in 1q24.1)   {1393} case P1
01-
WmU-N/
22-1
 female ~1y
 PBL
 n.a. early infantile epileptic encephalopathy (EIEE) and cortical visual impairment (gene DOCK7  in 1p31.3)   {1409}
01-
WmU-N/
23-1
 female ~4y
 PBL
 n.a. congenital muscular dystrophie (gene B3GALNT2  in 1q42.3)   {1425}
01-
WmU-N/
24-1
 female 4m
 PBL
 n.a. uncombable hair syndrome (gene PADI3  in 1p36.13)   {1459}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
WmU-N/
mos/
11-1
 n.a.
 postnatal
 PBL
 n.a.
iUPD in mosaic
 restrictive dermopathy or related progeroid syndrome
(gene ZMPSTE24 in 1p34.2) 		{1340} case P2; {1062} 1 case;
{1173} 1 case


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
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
01-
WmU-sSMC/
1-1
01-
W-p21.1/
1-1
female/
6y
PBL
47,XX,+mar[14]/
46,XX[26]
r(1)(::p21.1→q12::)
midi; telomeric probes
see below
{1}
Born at term after uneventful pregnancy; birth weight 2500g, length 49cm; at 6y MR; height and weight normal; HC 44cm (<3rd centile); additionally temporal narrowing, downward slanting palpebral fissures, long eyelashes, high palate, pointed chin, low set, dysplastic ears, hip dysplasia, tapering fingers with clinodactyly of fingers 2, 4, 5.
01-
WmU-sSMC/
2-1
 01-
Uu-3
 male/
postnatal
 PBL
 47,XY,+mar[20]/
46,XY[80]
 der(1) (:p21.1→p21.1)
aCGH: arr[GRCh37] 105,427,063- 121,330,906
mat hetero/
isodisomy at 1p36.33p34.3, 1p34.3p12 and 1q21.3q25.3
 aCGH
 DD; micocephaly
 {1174} case sSMC1


segmental mat UPD-cases with or unclear clinical correlation

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
WmU-seg/
n.a./
1-1
 n.a.
 postnatal
 PBL
 n.a.
---
region n.a.
 see below
 {763} case 257814
Cutaneous finger syndactyly, 2-3 toe syndactyly, short nose, epicanthus, bilateral single transverse palmar creases, wide intermamillary distance, abnormality of the skin, delayed speech and language development; gene n.d.
01-
WmU-seg-
p31.3
1-1
 n.a.
 n.a.
 n.a.
 n.a.
---
1p31.3 to 1p13
 Leber Congenital Amaurosis (gene RPE65 in 1p31.3)
 {710} case 1

01-
WmU-seg-
p13.1/
1-1
 male
 newborn
 PBL
 46,XY
---
1p13.1~11.2 to 1qter
 Hutchinson-Gilford progeria syndrome (gene LMNA in 1q22)
 {403} case 1
01-
WmU-seg-
q21.1
1-1
 female
 newborn PBL n.a.
---
1q21.1 to 1qter
 congenital factor V deficiency (gene F5 in 1q24.2)
 {1414} case 1
01-
WmU-seg-
q21.3/
1-1
 male
 newborn
 PBL
 n.a.
---
1q21.3 to 1q23.1
 Restrictive dermopathy-like phenotype (gene LMNA in 1q22)
 {683}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
WmU-seg-
/
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
01-
WmU-imb/
1-1 		n.a 9y
 AF; PBL
 AF:46,XN,der(1)t(1;17)(p36.3;q21)[48]/46,XN[2]
PBL at 9y:46,XN
---
1pter to 1p36.22;
9.39 Mb [hg19] 		multiple congenital anomalies
 {1363} case 1
01-
WmU-imb/
2-1 		n.a.
 		prenatal
 AF; CH
 in NIPT del(1)(p36)
in AF 46,XN
---
1pter to 1p36.22;
9.33 Mb [hg19]		 normal sonography
 {1363} case 2
01-
WmU-imb/
3-1 		female
mother has same "UPD due to del"
in 1.63% of her blood cells
 		~1y
 PBL
 n.a.
 PI3K-Delta Syndrome 1
(gene PIK3CD  in 1p36.22)
 {1212}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 clinical symptoms
 reference
01-
WmU-imb/
mos/
1-1 		n.a.
 prenatal
 AF; CH; PBL
 in NIPT del(1)(p36.23) and dup(1)(p36.23p36.22)
in child (blood) 80% of cells with imbalance aCGH)
---
1pter to 1p36.13
16.32 Mb [hg19] 		normal as child
 {1363} case 4