TL

ChromosOmics - Database

- CHROMOSOME 7 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 7	UPD PATERNAL CHR . 7
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
07- OU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- 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
07- 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
07- 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
07- OU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- OU-seg/ q11.2/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 7q11.2 to 7q21.3 (29% of cells) and 7q21.3 to 7qter (18% of cells)	normal adult with bladder cancer	{545} case 1105
07- OU-seg/ q11.22/ mos/ 1-1	n.a.	adult	PBL	n.a. acc. to array duplication of 1p35.2-1p32.2 in 74% of PBL --- 1pter to 1p35.2 (55% of cells) and 7q11.22 to 7qter (48% of cells)	normal control	{545} case 468

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- OU-imb/ 1-1	n.a.	newborn	AF and PBL	NIPT: trisomy 7 in PBL: iUPD(7) in 7q11.23-q21.11	normal child born	{1104} case 43

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- 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
07- WU-N/ 1-1	female	2y	PBL	n.a. also UPD 13 see also 13-WU-N/ 2-1	DD, MR, dyslalia, ataxia	{1080} p16

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- 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
07- 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
07- WU-sSMC/ 1-1	07- U-19	female/ 6y	PBL	de novo	47,XX,+mar[?100%]	r(7)(::p11.2→q11.23::) aCGH: 70.42-73.21 Mb iso-UPD 7 of normal chrs. 7	macrocephaly, DD, self injury behavior	{635}

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
07- WU-seg/ p14.3/ 1-1	n.a.	postnatal	PBL	n.a. --- 7p14.3 to 7p14.1	neurodevelopmental disorder (iso-UPD 7 - no gene identifed)	{1162} case 346
07- WU-seg/ p21.1p14.1/ 1-1	male	n.a.	PBL	n.a. --- 7p21.1-14.1 (size 22.36 Mb)	n.a.	{1021} case 14
07- WU-seg/ p21.13/ 1-1	n.a.	postnatal	PBL	n.a. --- 7q21.13 to 7q31.1	neurodevelopmental disorder (iso-UPD 7 - no gene identifed)	{1162} case 169
07- WU-seg/ q21.3/ 1-1	n.a.	5y	PBL	n.a. --- 7q21.3 (size 1.098 Mb)	DD, autism, hyperactivity	{924} case 1
07- WU-seg/ q21.3/ 2-1	n.a.	11y	PBL	n.a. --- 7q21.3 (size 1.062 Mb)	DD, intellectual disability	{924} case 2
07- WU-seg/ q31.33-32.3/ 1-1	n.a.	2y	PBL	n.a. --- 7q31.33-32.3 (size 4.257 Mb)	DD, intellectual disability, microcephaly, seizures, hypotonia, DYS	{924} case 3
07- WU-seg/ q31.33-32.3/ 2-1	n.a.	2.5y	PBL	n.a. --- 7q31.33-32.3 (size 1.089 Mb)	DD, intellectual disability, microcephaly, seizures, hypotonia, DYS	{924} case 4
07- WU-seg/ q32.1-34/ 1-1	female	60y	PBL	n.a. --- 7q32.1-34 (size 9.8Mb) iUPD	erythrocytosis - gene BPGM in 7q33	{1772}
07- WU-seg/ q32.2/ 1-1	n.a.	3y	PBL	n.a. --- 7q32.2 (size 1.033 Mb)	DD, intellectual disability, DYS	{924} case 5
07- WU-seg/ q32.2/ 2-1	n.a.	15y	PBL	n.a. --- 7q32.2 (size 1.020 Mb)	DD, intellectual disability, heart defect	{924} case 6

mosaic cases

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

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

no UPD 7 detected in 247 cases diagnosed with trisomy 7 in NIPT {1306}

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- WU-imb/ 1-1 to 1-2	n.a.	prenatal	PBL	46,XN,+7 acc. to NIPT	case 115 TOP case 114 - possible SRS	{1389} cases 114 and 115
07- WU-imb/ 1-3	n.a.	prenatal	placenta	46,XN,+7 acc. to NIPT	n.a.	{1601} 1 case

mosaic cases

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