TL

ChromosOmics - Database

- CHROMOSOME 5 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 5	UPD PATERNAL CHR . 5
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
05- OmU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
05- 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
05- 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
05- 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
05- OmU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
05- 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
05- OmU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
05- 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
05- WmU-N/ 1-1	female	3y	PBL	n.a.	Netherton syndrome (gene SPINK5 in 5q32)	{444} patient 2
05- WmU-N/ 1-2	female	10y	PBL	n.a.	Netherton syndrome (gene SPINK5 in 5q32)	{849}
05- WmU-N/ 2-1	female	12y	PBL	46,XX	Stüve-Wiedemann syndrome (gene LIFR in 5p13.1)	{850}
05- WmU-N/ 3-1	male	4y	PBL	n.a.	Congenital sodium diarrhea = CSD (gene SLC9A3 in 5p15.33)	{922}
05- WmU-N/ 4-1	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
05- WmU-N/ 5-1	female	newborn	PBL	n.a.	recurrent diarrhea (gene PCSK1 in 5q15)	{1361}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
05- 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
05- 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
05- WmU-sSMC/ 1-1	05-O- p13.1/ 1-2	female/ prenatal	AF	47,XX,+mar[7]/46,XX[43]	min(5)(:p13.1→q11.1:)	cenM; subcenM	no sonographic signs; AMA, child born; no abnormalities reported; slight hip dislocation	{0} provided by Dr. Schulze, Hannover, Germany

segmental mat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
05- WmU-seg/ pter/ 1-1	n.a.	51y	PBL	n.a. --- 5pter to 5p15.1; 16.44 Mb [hg19]	MR, heart problems	{1363} case 7

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
05- 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
05- WmU-imb/ 1-1	male	prenatal	CVS/ PBL	47,XY,+21[98]/ 48,XY,+5,+21[25] after birth no +5 clone	Down-syndrome	{1258}

mosaic cases

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