TL

ChromosOmics - Database

- CHROMOSOME 4 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 4	UPD PATERNAL CHR . 4
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 or pat UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- OU-N/ 1-1 to 1-2	n.a.	adult	PBL	n.a.	most likely normal, maybe schizophrenia	{912} 2 cases

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- OU-N/ mos/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases without clinical findings + balanced karyotype

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

mat or pat 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
04- OU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat or pat UPD-cases without clinical findings

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- OU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- OU-seg/ / mos/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases without clinical findings + other imbalances

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- OU-imb/ 1-1	n.a.	prenatal	PBL	46,XN,+4 acc. to NIPT	normal child born	{1389} case 107

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- WU-N/ 1-1	n.a.	n.a.	n.a.	n.a.	n.a.	{1170} 1 case
04- WU-N/ 2-1 to 2-4	n.a.	postnatal	PBL	46,XN	different neurodev. disorders	{1300} 4 cases
04- WU-N/ 2-5	n.a.	postnatal	PBL	n.a.	autism spectrum disorder	{1450} 1 case

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- WU-N/ mos/ 1-1	-	-	-	-	-	-

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

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

mat or pat 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
04- WU-sSMC/ 1-1	04- U-12	n.a./ n.a.	PBL	n..a	mar(4)(p13q12) hg19:44.45–57.26Mb size of UPD unclear no gene identified	aCGH	most likely DYS and MR	{828; 1170} 1 case

segmental mat or pat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- WU-seg/ q21.23/ 1-1	n.a.	postnatal	PBL	n.a. --- i(UPD) in 4q21.23 to 4q22.1 no gene identified	clinically abnormal	{947} case 43

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- WU-seg/ / mos/ 1-1	-	-	-	-	-	-

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- WU-imb/ 1-1	female	13y	PBL	46,X,der(X)t(X;4) (p22.33;q24)	scoliosis, hepatomegaly, chronic lymphocytic thyroiditis, oliguria, anuria iUPD - no gene identified	{848}
04- WU-imb/ 2-1	n.a.	newborn	PBL	46,XN,der(4)(pter→p14: :p15.2→qter) in aCGH dup: 26.38-39.75 Mb UPD(4)seg: 4pter→4p14 in aCGH: 0-26.38 Mb	n.a.	{858} case 128 {1363} case 43
04- WU-imb/ 3-1	n.a.	35y	PBL	aCGH x3: 4q31.21-4q32.1 iUPD: 4q31.21-4qter	inteleectual disability	{1363} case 44
04- WU-imb/ 4-1	n.a.	prenatal	PBL	46,XN,+4 acc. to NIPT	TOP	{1389} case 105

mosaic cases

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