TL

ChromosOmics - Database

- CHROMOSOME 21 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 21	UPD 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

mat UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- OmU-N/ 1-1	male	postnatal	PBL	n.a.	none - studied due to paternity testing	{255}
21- OmU-N/ 1-2 to 1-3	n.a.	prenatal	n.a.	46	abnormal first trimester test (no follow-up data)	{755} 2 cases
21- OmU-N/ 1-4	n.a.	postnatal	PBL	n.a.	normal child - paternity test	{1493}

mosaic cases

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

mat UPD-cases without clinical findings + balanced karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- OmU-bal/ 1-1	male	postnatal	PBL	45,XY,der(21;21)(q10;q10)mat	none - studied due to repeated abortions in mother	{295}
21- OmU-bal/ 1-2	male	prenatal	AF	45,XY,der(21;21)(q10;q10)dn	none - detected during prenatal screening; normal child born; normal at 1 y	{311}

mat 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- OmU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat UPD-cases without clinical findings

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

mosaic cases

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

mat UPD-cases without clinical findings + other imbalances

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- WmU-N/ 1-1	n.a.	early pregnancy	fetal tissue	46,XN	early embryonic failure	{207}
21- WmU-N/ 1-2	n.a.	prenatal	AF	46,XN	abnormal sonography	{899} 1 case
21- WmU-N/ 2-1	male	15 m	PBL	46,XY	normal at birth; DD from 15 m of age; iso UPD 21q21.1 to 21q22.12, no gene identified	{547}
21- WmU-N/ 3-1	n.a.	5y	PBL	n.a.	DD; congenital abnormalities of the nervous system, no gene identified	{619} case 35
21- WmU-N/ 4-1	female	postnatal	PBL	n.a.	popliteal pterygium syndrome (gene RIPK4 in 21q22.3)	{876} case PPS2

mosaic cases

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

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

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

mat 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- WmU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat UPD-cases with or unclear clinical correlation

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

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- WmU-imb/ 1-1	female	newborn	PBL fibroblasts	46,XX in PBL after ~1year initially and in fibroblasts: 46,XX,del(21)/46,XX,-21	growth failure, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation	{81} case 2 {290} case MP04
21- WmU-imb/ 2-1	n.a.	newborn	PBL	47,+21/46	Down syndrome	{120}
21- WmU-imb/ 2-2	female	prenatal	AF, CH	46,XX in placenta 47,XX,+21	no abnormalities; nonetheless parents decided for TOP	{732}
21- WmU-imb/ 3-1	n.a.	early pregnancy	fetal tissue	48,+7,+9/46	early embryonic failure	{207}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
21- WmU-imb/ mos/ 1-1	female	23y	PBL	see below	severe MR and ID	{1291} case FIN10-3
21- WmU-imb/ mos/ 1-1	no karyotype available; In addition to the DYRK1A deletion (overall 2.7 Mb) mosaicism, complex mosaicism of three different homozygosity regions, 21q22.11q22.3 (78%), 21q21.3q22.11 (30%), and 21q21.1q21.3 (15%), was detected resulting from maternal uniparental disomy (UPD)