TL

ChromosOmics - Database

- CHROMOSOME 20 -
- paternal UPD -

UPD MATERNAL CHR . 20	UPD unclear if maternal or paternal CHR . 20
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
20- OpU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
20- 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
20- 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
20- OpU-sSMC/ 1-1	20-O-p11.21 ~11.22/ 1-1	male/ prenatal	AF chord blood	47,XY,+mar[10]/ 46,XY[55]	see below	cenM, subcenM	AMA; healthy child born at term, normal at 3 months of age	{0} case provided by Dr. Hickmann (Düsseldorf, Germany)
20- OpU-sSMC/ 1-1	in AF: min(20)(:p11.21~11.22→q11.1:) in chord blood: min(20)(:p11.21~11.22→q11.1:)[8]/min(20)(:p11.21~11.22→q11.1::q11.1→p11.21~11.22:)[4]/min(20)(:p11.1→q11.21:)[1] FISH-data: RP11-96L6 in 20p (25.47MB) and RP11-243J16 in 20q (29.93MB) on sSMC

segmental pat UPD-cases without clinical findings

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
20- 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
20- OpU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
20- 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
20- WpU-N/ 1-1	female	3y	PBL	46,XX	Pseudohypoparathyoridism type Ib (PHP-Ib)	{554}
20- WpU-N/ 1-2	n.a.	postnatal	PBL	n.a. pat20p heterodisomy plus interstitial 20q isodisomy	PHP-Ib	{558; 868} case 1
20- WpU-N/ 1-3	female	postnatal	PBL	n.a.	PHP-Ib - maybe also in brother	{682}
20- WpU-N 1-4	male	5y	PBL	n.a.	PHP-Ib	{867}
20- WpU-N 1-5	male	21y	PBL	n.a.	PHP-Ib and osteosarcoma	{965}
20- WpU-N 1-6 to 1-11	male and female	postnatal	PBL	n.a.	PHP-Ib	{1147} 6 cases
20- WpU-N/ 2-1	female	postnatal	PBL	n.a.	Severe combined immunodeficiency due to ADA deficiency (gene ADA in 20q13.12)	{723}
20- WpU-N/ 3-1	male	postnatal	PBL	n.a.	PHP-Ib and BWS due to imprinting center defect	{1303}
20- WpU-N/ 3-2	male	6.5y	PBL	n.a.	PHP-Ib and BWS	{1492}

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
20- 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
20- WpU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental pat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
20- WpU-seg/ q11/ 1-1	n.a.	postnatal	PBL	n.a. --- 20q11 to 20qter	PHP-Ib	{348, 349} family 6; {350} {487; {558, 868} case 2
20- WpU-seg/ q11/ 1-2 to 1-3	male and female	postnatal	PBL	n.a. --- 20q11 to 20qter	PHP-Ib	{866} 2 cases
20- WpU-seg/ q11/ 1-4	n.a.	postnatal	PBL	n.a. --- 20q11 to 20qter	PHP-Ib	{1325} 1 case
20- WpU-seg/ q12/ 1-1	male	postnatal	PBL	n.a. --- 20q12 to 20qter	PHP-Ib	{707} case 1
20- WpU-seg/ q13.13/ 1-1 to 1-2	n.a.	postnatal	PBL	n.a. --- 20q13.13 to 20qter	PHP-Ib	{558, 868} 2 cases
20- WpU-seg/ q13.2/ 1-1	female	prenatal	AF	46,XX,t(11;20)(p13;p13)mat --- 20q13.2 to 20qter	n.a.	{0} provided by Dr. Cláudia Manuela Alves Calder, Porto, Portugal
20- WpU-seg/ q13.31/ 1-1	male	postnatal	PBL	n.a. --- 20q13.31 to 20q13.32	PHP-Ib	{707} case 2

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
20- WpU-imb/ 1-1	male	newborn	PBL	47,XX,+20/45,XY,psu dic(20;20)(p13;p13)/46,XX,psu dic(20;20)	absence of external ears, multiple aberrations	{102}

mosaic cases

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