TL

ChromosOmics - Database

- CHROMOSOME 7 -
- paternal UPD -

UPD MATERNAL CHR . 7	UPD unclear if maternal or 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

pat UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

pat UPD-cases without clinical findings + balanced karyotype

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

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- OpU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental pat UPD-cases without clinical findings

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- OpU-seg/ pter/ 1-1	male	prenatal	AF / PBL	46,XY --- 7pter to 7p22.1 hg19: 44,166–7,152,131	no clinical signs personal comm. with author: he "could not find data if hUPD(7) was tested".	{1470}

mosaic cases

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

pat UPD-cases without clinical findings + other imbalances

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

mosaic cases

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

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- WpU-N/ 1-1	male?	n.a.	PBL	n.a.	cystic fibrosis and primary ciliary dyskinesia with situs inversus totalis (gene CFTR in 7q31.2)	{80; 168}
07- WpU-N/ 1-2	male	33y	PBL	n.a.	cystic fibrosis mutation leading to congenital bilateral absence of the vas deferens (gene CFTR in 7q31.2)	{505}
07- WpU-N/ 1-3	female	postnatal	PBL	n.a.	cystic fibrosis (gene CFTR in 7q31.2)	{246}
07- WpU-N/ 2-1	male	postnatal	PBL	n.a.	cystic fibrosis, overweight, developmental delay (gene CFTR in 7q31.2)	{166}
07- WpU-N/ 2-2	male	postnatal	PBL	46,XY	cystic fibrosis, developmental delay (gene CFTR in 7q31.2)	{170} case 17
07- WpU-N/ 3-1	female	23y	PBL	n.a.	congenital chloride diarrhea Finnish type (gene SLC26A3 in 7q31.1)	{114; 118}
07- WpU-N/ 4-1 to 4-2	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
07- WpU-N/ 5-1	male	5y	PBL	n.a.	overgrowth; no disease causing gene identified	{1055}
07- WpU-N/ 6-1	male see also 15- WpU-N/ 7-1	newborn	PBL	46,XY UPD(15)pat; UPD(7)pat	AS and UPD(7)pat	{1356}
07- WpU-N/ 7-1	male	prenatal	PBL	46,XY	overweight and gene SUGCT in 7p14.1	{1498}
07- WpU-N/ 8-1	female	prenatal	AF	46,XX	DYS, DD, heart disease	{1578} case 18

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- WpU-N/ mos/ 5-1	-	-	-	-	-	-

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- WpU-bal/ 1-1	-	-	-	-	-	-

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- WpU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental pat UPD-cases with or unclear clinical correlation

mosaic cases

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

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- WpU-imb/ 1-1	male	newborn	PBL	45,XY,psu dic(7;7)(p22;p22)	lethal osteosclerotic bone dysplasia, who died 2 h after birth (gene FAM20C in 7p22.3)	{502}

mosaic cases

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