TL

ChromosOmics - Database

- CHROMOSOME 12 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 12	UPD PATERNAL CHR . 12
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
12- OmU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- 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
12- 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
12- OmU-sSMC/ 1-1	12-O-p11/ 1-1	female/ prenatal	AF	47,XX,+mar[16]/ 46,XX[14]	min(12)(:p11→q11:)	cenM; wcp and pcps	see below	{17} {18} case 11
12- OmU-sSMC/ 1-1	AMA; born after 39 weeks of gestation; birth weight 2850g, length 46cm, head circumference 34cm, all around the 50th centile. Apgar score 9 , 10, 10. No congenital anomalies orDYS were noted. At age of six weeks, clinical examination indicated normal somatic and psychomotor development.

segmental mat UPD-cases without clinical findings

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

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- 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
12- WmU-N/ 1-1	female	3y	PBL	n.a.	von Willebrand disease type 1 (gene VWF in 12p13.31)	{630}
12- WmU-N/ 2-1	female	2y	PBL	n.a.	hereditary 1,25-hydroxyvitamin D-resistant rickets (gene VDR in 12q13.11)	{904}
12- WmU-N/ 3-1	male	30y	PBL	46,XY	MMAF asthenospermia (gene CFAP251 in 12q24.31)	{1380}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- 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
12- 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
12- WmU- sSMC/ 1-1	12-Wpks-159	female/ prenatal	AF	47,XX,+12/ 47,XX,+i(12)(p10)/ 46,XX	n.a.		Pallister Killian syndrome expected, TOP	{522}

segmental mat UPD-cases with or unclear clinical correlation

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
12- 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
12- WmU-imb/ 1-1	male	prenatal	AF, 'tissue'	47,XY,+12[4]/46,XY[19]	abnormal ultrasound; multiple malformations in newborn; died after 1 hour	{107} case B
12- WmU-imb/ 1-2	female	prenatal	AF, PBL, CH	47,XX,+12[2]/46,XX[45] biparental inheritance in AF; mat UPD in CH	AMA; sonographic abnormalities, TOP	{107} case D
12- WmU-imb/ 1-3	n.a.	prenatal	CH	47,+12/46	n.a.	{619} case 25

mosaic cases

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