TL

ChromosOmics - Database

- CHROMOSOME 21 -
- paternal UPD -

UPD MATERNAL CHR . 21	UPD unclear if maternal or paternal CHR . 21
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 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
21- OpU-N/ 1-1	female	32y	PBL	46,XX	repeated trisomy 21 (in family); father has same UPD 21	{79}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- 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
21- OpU-bal/ 1-1	male	adult	PBL	45,XY,der(21;21)(q10;q10)	normal male ascertained due to offspring with Down syndrome	{109}
21- OpU-bal/ 1-2	female	postnatal	PBL	45,XX,der(21;21)(q10;q10)	none	{304} case 6

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
21- 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
21- OpU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- 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
21- OpU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- 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
21- WpU-N/ 1-1	female	8th week of gestation	placenta	46,XX	missed abortion	{183} case 2
21- WpU-N/ 2-1	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
21- WpU-N/ 3-1	male	postnatal	PBL	n.a. in aCGH normal	autoimmune polyendocrine syndrome type 1 (gene AIRE in 21q22.3)	{1420} case 19
21- WpU-N/ 4-1	n.a.	prenatal	AF	n.a.	n.a.	{1604} case 5 in App. 3

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- 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
21- 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
21- 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
21- WpU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- 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
21- WpU-imb/ 1-1	female	newborn	PBL fibroblasts	46,XX in PBL after ~1year initially and in fibroblasts: 46,XX,r(21)/46,XX,-21	growth failure, facial DYS, muscular hypertonia, and severe psychomotor retardation	{81} case 1 {290} case OB01
21- WpU-imb/ 2-1	male	10m	PBL	45,XX,-21,dup(21)(q22.11q22.3)	short stature, DYS, mild motor delay	{1106}

mosaic cases

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