TL

ChromosOmics - Database

- CHROMOSOME 16 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 16	UPD PATERNAL CHR . 16
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
16- OU-N/ 1-1	n.a.	pre and postnatal	AF and PBL	n.a.	normal	{1221} case 53

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- 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
16- 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
16- 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
16- OU-seg/ pter/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- OU-seg/ pter/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 16pter to 16p13.12 (in 25% of PBL)	normal adult with bladder cancer	{545} case 1205

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- OU-imb/ 1-1 to 1-3	n.a.	prenatal	PBL	46,XN,+16 acc. to NIPT	normal child born	{1389} cases 143 and 145-146

mosaic cases

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

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

for thoughts about UPD(16) see Ref 993 and 1144

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- WU-N/ 1-1	female	newborn	PBL	n.a.	Bardet-Biedl syndrome 2 (gene BBS2 in 16q13)	{828} 1 case
16- WU-N/ 2-1 to 2-2	n.a.	n.a.	PBL	n.a.	most likely dymorphic and MR size of UPD unclear no gene identified	{828} 2 cases
16- WU-N/ 3-1	male	11y	PBL	n.a.	Meier-Gorlin syndrome (gene ORC6 in 16q11.2)	{1001}
16- WU-N/ 4-1	female	prenatal	cord blood	46,XX	IUGR	{1002}
16- WU-N/ 4-2	n.a.	prenatal	?AF; CH	n.a.	IUGR	{1124} case 2
16- WU-N/ 5-1 to 5-8	male or female	prenatal	AF	46,XY or XX	DYS, TOP	{1542} cases 3, 13, 14, 22, 25, 29, 32 {1578} case 31}
16- WU-N/ 6-1 to 18-1	n.a.	postnatal	PBL	46,XN	different neurodev. disorders	{1300} 13 cases
16- WU-N/ 19-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder (gene CLN3 in 16p12.1 )	{1300} 1 case

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- 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
16- 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
16- WU-sSMC/ 1-1	-	-	-	-	-	-	-	-

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
16- WU-seg/ pter/ 1-1	n.a.	prenatal	fibroblasts	n.a. ---- 16pter to 16p12.3 and 16q21 to 16q23	spontaneous abortion	{817} 1 case
16- WU-seg/ p31.3/ 1-1	female	16y	PBL	n.a. --- 16p13.3 to 16p13.13	neurodevelopmental disorder (iso-UPD 16 - no gene identifed)	{1162} case 204

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- WU-seg/ pter/ mos/ 1-1	n.a.	2m	PBL	46,XN --- 16pter to 16p11.2 (in 32% of PBL)	neonatal liver impairment, heart murmor	{652} case 11
16- WU-seg/ q11.2/ mos/ 1-1	n.a.	prenatal	PBL	n.a. --- 16q11.2 to 16qter 46.65 Mb [hg19] 35% mos	IUGR; microcephaly	{1363} case 32

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- WU-imb/ 1-1 to 1-4	n.a.	prenatal	chorion	mos 47,+16/46	n.a.	{902; 1057; 1058; 1059} overall 4 cases
16- WU-imb/ 1-5	n.a.	prenatal	chorion; PBL	mos 47,+16/46	IUGR; complete AVSD	{1113} case 8
16- WU-imb/ 1-6 to 1-7	n.a.	prenatal	n.a.	mos 47,+16/46	n.a.	{1190} 2 cases
16- WU-imb/ 1-8 to 1-10	n.a.	prenatal	PBL	46,XN,+16 acc. to NIPT	TOP, or no info available or fetal loss	{1389} cases 142, 144, 147
16- WU-imb/ 1-11 to 1-14	n.a.	prenatal	PBL	46,XN,+16 acc. to NIPT	born but small for gest. age	{1444} cases 6-9
16- WU-imb/ 2-1	female	prenatal	chorion	47,XX,+20	intrauterine death	{1289} case 4

mosaic cases

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