TL

ChromosOmics - Database

- CHROMOSOME 18 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 18	UPD 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

mat UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

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
18- 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
18- WmU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

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

mat UPD-cases without clinical findings + other imbalances

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
18- OmU-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 born	{613} case 2
18- OmU-imb/ 2-1	female	prenatal	AF	47,XX,+18[14]/ 46,XX[36]	normal female born	{1412}
18- OmU-imb/ 2-2	male	prenatal	AF	47,XY,+18[9]/ 46,XY[12]	normal female born even though mos +18	{1485}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
18- 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
18- WmU-N/ 1-1	n.a.	prenatal	AF	n.a.	n.a.	{1604} case 17 in App. 2

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
18- 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
18- 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
18- WmU-sSMC/ 1-1	18- Uu- 1	female/ prenatal	AF	47,XX,+mar[16]/ 47,XX,+18[2]	min(18)(:p11.1→q11.1:)*	NIPT, cep 18	AMA, no sonographic signs; TOP; no external abnormalities	{1110}

segmental mat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
18- WmU-seg/ q11/ 1-1	n.a.	postnatal	PBL	n.a. --- 18q11 - 18qter	Nagashima-type palmoplantar keratosis; (gene SERPINB7 in 18q21.33)	{1269}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
18- 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
18- WmU-imb/ 1-1	n.a.	prenatal	placenta; AF, different tissues	mos 47,+18/46	monocygotic twins, TRAP in one, TOP	{805}

mosaic cases

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