TL

ChromosOmics - Database

- CHROMOSOME 18 -
- paternal UPD -

UPD MATERNAL CHR . 18	UPD unclear if maternal or paternal CHR . 18
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
18- OpU-N/ 1-1	n.a.	prenatal	AF	46	test due to abnormal biochemistry in noninvasive prenatal test; normal child born, and normal at 1y	{807}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
18- 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
18- 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
18- 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
18- WpU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result grade of mosaicism	clinical symptoms	reference
18- WpU-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
18- OpU-imb/ 1-1	female	prenatal	PBL	46,XX,rec(18)dup(p)inv(18)(p11.31q21.33)mat, rec(18)dup(q)inv(18)(p11.31q21.33)pat --- 18pter to 18p11.31 mat hUPD 18q21.33 to 18qter pat hUPD	normal female	{613} case 2

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
18- 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
18- WpU-N/ 1-1	n.a.	3y	PBL	n.a.	Delayed speech, overlapping 4th finger	{619} case 34
18- WpU-N/ 2-1	n.a.	postnatal	PBL	n.a.	hearing impaired patient (gene LOXHD1 in 18q21.1)	{1132}
18- WpU-N/ 3-1	male	12y	PBL	46,XY	Dyggve-Melchior-Clausen syndrome (gene DYM in 18q21.1)	{1505}
18- WpU-N/ 4-1	female	8y	PBL	n.a.	PIEZO2-deficency-syndrome (gene PIEZO2 in 18p11.22-p11.21)	{1522} {1559} case 12

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
18- 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
18- 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
18- 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
18- WpU-seg/ q12.3/ 1-1	n.a.	prenatal	AF	n.a. --- 18q12.3 to 18qter	n.a.	{1604} case 7 in App. 4

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
18- 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
18- WpU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

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