TL

ChromosOmics - Database

Icon by Leon Liehr

- CHROMOSOME 2 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 2	UPD PATERNAL CHR . 2
UPD-cases without clinical findings + normal karyotype	UPD-cases with or unclear clinical correlation + normal karyotype
UPD-cases without clinical findings + balanced karotype	UPD-cases with or unclear clinical correlation + balanced karotype
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
02- OmU-N/ 1-1	female	4y	PBL	46,XX	no clinical signs; detected due to paternity test	{206}
02- OmU-N/ 1-2	male	n.a.	PBL	n.a.	no clinical signs; detected due to paternity test	{1072}
02- OmU-N/ 1-3	n.a.	n.a.	PBL	n.a.	no clinical signs; detected due to paternity test	{1305}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- OmU-bal/ 1-1	female	36y	PBL	46,XX,i(2)(p10),i(2)(q10)	normal woman repeated abortions	{37}
02- OmU-bal/ 2-1 to 2-2	see 02-OmU-seg-q11/1-1 to 1-2

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
02- 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
02- OmU-seg/ p16/ 1-1	female	22y	PBL	46,XX --- 2p16	normal female	{341}
02- OmU-seg/ q11/ 1-1	female	36y	PBL	46,XX,i(2)(p10),i(2)(q10) --- 2q11 to 2qter	normal female repeated abortions	{58} {348; 349} family 4
02- OmU-seg/ q11/ 1-2	male	34y	PBL	46,XY,i(2)(p10),i(2)(q10) --- 2q11 to 2qter	normal male repeated abortions in female partner	{450}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- OmU-imb/ 1-1	n.a.	prenatal	PBL	47,XN,+2 acc. to NIPT	normal child born	{1389} case 103
02- OmU-imb/ 1-2	male	prenatal	PBL	47,XY,+2[11]/ 46,XY[19]	normal child born	{1484}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result grade of mosaicism	clinical symptoms	reference
02- 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
02- WmU-N/ 1-1	male	postnatal	PBL	n.a.	Severe congenital hypothyroidism (gene TPO in 2p25.3)	{128; 512}
02- WmU-N/ 2-1	male	postnatal	PBL	n.a.	Infantile-onset ascending spastic paralysis (gene IAHSP in 2q33.1)	{212}
02- WmU-N/ 3-1 to 3-2	male and n.a.	postnatal	PBL	n.a.	Lethal trifunctional protein deficiency (gene HADHA/ LCHAD in 2p23.2)	{337} 2 cases
02- WmU-N/ 4-1	male	newborn	PBL	n.a.	inherited disorders of pulmonary surfactant metabolism (gene SFTPB in 2p11.2)	{490} Patient with SP-B deficiency
02- WmU-N/ 5-1	male	newborn	PBL	n.a.	Familial male-limited precocious puberty (gene LHCGR in 2p16.3)	{509}
02- WmU-N/ 6-1	female	newborn	PBL	n.a.	Homozygous deletion of approximately 28.6 kb that disrupts the PREPL and the CAMKMT genes but not the SLC3A1 gene	{677; 747}
02- WmU-N/ 7-1	female	21y	PBL	46,XX	Klippel Feil syndrome and more complex aberrations iUPD but no gene identified as causative	{704}
02- WmU-N/ 8-1	female	newborn	PBL	46,XX	Hepatocerebral mitochondrial DNA depletion syndrome (gene DGUOK in 2p13.1)	{708}
02- WmU-N/ 9-1	n.a.	postnatal	PBL	n.a.	see below	{763} case 259010
02- WmU-N/ 9-1	Glandular hypospadias, overlapping toe, bicuspid aortic valve, global developmental delay, meckel diverticulum, eczema, gastroesophageal reflux, gene n.d.
02- WmU-N/ 10-1	n.a.	postnatal	PBL	n.a.	Microcephaly-capillary malformation syndrome (gene STAMBP in 2p13.1)	{764}
02- WmU-N/ 11-1	male	1y	PBL	n.a.	Epilepsy, generalized, with febrile seizures plus, type 7 (gene SCN9A in 2q24.3)	{841} case 449
02- WmU-N/ 12-1	female	postnatal	PBL	n.a.	Congenital myasthenia syndrome (gene GFPT1 in 2p13.3)	{846; 1244}
02- WmU-N/ 13-1	male	postnatal	PBL	n.a.	arthrogryposis multiplex congenita and myopathy without cardiac involvement (gene TTN in 2q31.2)	{966}
02- WmU-N/ 14-1	male	3y	PBL	n.a.	Obesity and developmental delay (no gene identified - 2 cnadidate genes GPBAR1 and CAPN10)	{973}
02- WmU-N/ 15-1	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
02- WmU-N/ 16-1	female	postnatal = after TOP	after TOP from umbil. cord	46,XX	fetal akinesia syndrome (gene CHRNG in 2q37.1)	{1075}
02- WmU-N/ 17-1	female	6y	PBL	n.a.	Ribose-5-phosphate isomerase deficiency (gene RPIA in 2p11.2)	{1189}
02- WmU-N/ 18-1	female	6m	PBL	n.a.	Congenital myasthenic syndrome 22 (gene PREPL in 2p21)	{1196}
02- WmU-N/ 19-1	n.a.	prenatal	?AF	n.a.	Intrauterine fetal demise, skeletal dysplasia (no gene identified)	{1213} case V2
02- WmU-N/ 20-1	n.a.	prenatal	?AF	n.a.	Intrauterine fetal demise, skeletal dysplasia (no gene identified)	{1213} case V2
02- WmU-N/ 21-1	male	postnatal	PBL	n.a.	Congenital myasthenic syndrome-22 (gene PREPL in 2p21)	{1243} patient 1
02- WmU-N/ 22-1	female	21y	PBL	n.a.	multisystem mitochondrial disease (gene MRPL44 in 2q36.1)	{1288}
02- WmU-N/ 23-1	male	8y	PBL	n.a.	Infantile hypotonia with psychomotor retardation and characteristic facies (gene UNC80 in 2q34)	{1341}
02- WmU-N/ 24-1	female	postnatal, child	PBL	46,XX	Catel-Manzke-syndrome (gene KYNU in 2q22.2)	{1357}
02- WmU-N/ 25-1	n.a.	postnatal	PBL	n.a.	n.a. (no gene identified)	{1340} case P6
02- WmU-N/ 26-1	n.a.	postnatal	PBL	n.a.	Warburg Micro syndrome 1 or Martsolf syndrome 2 (gene RAB3GAP1 in 2q21.3)	{1340} case P7
02- WmU-N/ 27-1	n.a.	postnatal	PBL	n.a.	n.a. (no gene identified)	{1340} case P8
02- WmU-N/ 28-1	male	adult	PBL	n.a.	normal male with spermatogenic failure (gene INHBB in 2q14.2)	{1451; 1452}
02- WmU-N/ 29-1	male	~1y	PBL	n.a.	Alström syndrome (gene ALMS1 in 2p13.1)	{1464}
02- WmU-N/ 30-1	female	newborn	PBL	n.a.	mitochondrial disease caused by type 44 oxidative phosphorylation coupling defect (gene FASTKD2 in 2q33.3)	{1465}
02- WmU-N/ 31-1	n.a.	postnatal	PBL	n.a.	multicystic dysplastic kidney (no gene identified)	{1479} case 14
02- WmU-N/ 32-1	male	5y	PBL	46,XY	Hyperphosphatemic familial tumoral calcinosis (gene GALNT3 in 2q24.3)	{1483}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- WmU-bal/ 2-1	male	newborn	PBL	46,XY,i(2)(p10),i(2)(q10) - (isoUPD)	bilateral ear pits, significant pectus carinatum, growth retardation	{60}

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
02- WmU-sSMC/ 1-1	02- Ud-2	female/ prenatal	fibroblasts	47,XX,+r[70%], 46,XX[30%]	see below	NGS UPD test	multiple malformations TOP	{0} provided by Prof. Zuffardi, Italy
02- WmU-sSMC/ 1-1	seq[GRCh37] +r(2)(::q11.1→q11.2: :q32.2→q36.3::) chr2:g.[cen_95326171_97556545: :191545235_230273236inv]add maternal hetero/ isodisomy at 2p24.3p14, 2q11.2q12.3 and 2q36.3q37.2

segmental mat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- WmU-seg/ 1-1	female	newborn	PBL	n.a.	congenital disorders of glycosylation (CDG)	{1241}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- 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
02- WmU-imb/ 1-1	male	prenatal	AF, placenta	placenta: 47,XX,+2/46,XX AF: 46,XX	IUGR; hypospdias, oligohydramnion; child too small for gestational age born in week 36, oxidatove stress and dead 2 h after birth	{203}
02- WmU-imb/ 1-2	male	pre- and postnatal	AF, placenta	placenta: 47,XY,+2/46,XY AF: 46,XY	IUGR; growth retradation; otherwise normal	{204}
02- WmU-imb/ 1-3	female	pre- and postnatal	AF, placenta, skin	placenta, CH, AF: 47,XX,+2/46,XX PBL, skin: 46,XX	IUGR; growth retradation; multiple minor malformations	{375} {386} case 2
02- WmU-imb/ 1-4	female	pre- and postnatal	AF, placenta, skin	placenta, CH, AF: 47,XX,+2/46,XX PBL, skin: 46,XX	IUGR; growth retradation; multiple minor malformations, normal development at 6 months	{386} case 1
02- WmU-imb/ 1-5	female	prenatal	AF	47,XX,+2[~12-15%]/ 46,XX[~85-88%]	lethal junction epidermolysis bullosa (gene ITGA6 in 2q31.1)	{1158}
02- WmU-imb/ 1-6	n.a.	prenatal	PBL	47,XN,+2 acc. to NIPT	TOP	{1389} case 102
02- WmU-imb/ 1-7	n.a.	prenatal	PBL	47,XN,+2 acc. to NIPT and in placenta karyotype 46,Xn in fetus	IUGR, oligohydramnion; fetl death	{1508}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
02- WmU-imb/ mos/ 1-1	-	-	-	-	-	-