TL

ChromosOmics - Database

- CHROMOSOME 5 -
- paternal UPD -

UPD MATERNAL CHR . 5	UPD unclear if maternal or 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

pat UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
05- OpU-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
05- OpU-imb/ 1-1	male	prenatal	chorion, AF; PBL	47,XY,+5 in chorion 46,XY in AF and PBL	IUGR; normal at birth iUPD(5)pat after trisomic rescue! At 1 years, central hypotonia, lack of coordination, torticollis, and delay in motor skills	{1112; 0} provided by the family

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
05- 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
05- WpU-N/ 1-1	male	2y	PBL	46,XY	spinal muscular atrophy 1 (gene SMN in 5q13.2)	{400}
05- WpU-N/ 2-1	female	prenatal	AF/PBL	46,XX	Autosomal recessive multiple epiphyseal dysplasia (EDM4/rMED) (gene SLC26A2 in 5q32)	{793}
05- WpU-N/ 3-1	male	1y	PBL	46,XY	Delayed growth, macrocrania, hypospadias, psychomotor DD (no gene identified)	{896} case 1
05- WpU-N/ 4-1	male	5y	PBL	n.a.	Kilquist syndrome (gene SLC12A2 in 5q23.3)	{1087}
05- WpU-N/ 5-1	female	22y	PBL	n.a.	Hereditary sensory and autonomic neuropathy (HSAN) 2B (gene RETREG1 in 5p15.1)	{1204}
05- WpU-N/ 6-1	female	1y	PBL	n.a.	mitochondrial complex I respiratory chain disorder (gene NDUFS4 in 5q11.2)	{1262}
05- WpU-N/ 7-1	female	9y	PBL	n.a.	folliculin Interacting protein 1 deficiency (gene FNIP1 in 5q31.1)	{1276} case P2
05- WpU-N/ 8-1	female	newborn	PBL	n.a.	Cockayne syndrome (gene ERCC8 in 5q12.1) and mitochondrial complex I deficiency (gene NDUFAF2 in 5q12.1)	{1587}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
05- 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
05- 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
05- 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
05- WpU-seg/ p15.31/ 1-1	female	n.a.	PBL	n.a. --- 5p15.31 to 5p15.31	cbl E type homocystinuria- megaloblastic anemia (gene MTRR in 5p15.31)	{651} case 2
05- WpU-seg/ q?/ 1-1	n.a.	postnatal	PBL	n.a. --- 5q?-5q?	Diencephalic-Mesencephalic Junction Dysplasia syndrome 1 ordiencephalic-mesencephalic junction dysplasia (gene PCDH12 in 5q31.3)	{1340} case P9
05- WpU-seg/ q11.2/ 1-1	male	2y	PBL	46,XY,del(5)(q11.1q11.2) --- 5q11.2 to qter	MR, autism, scoliosis (no gene identified)	{895} {896} case 10
05- WpU-seg/ q32/ 1-1	female	9y	PBL	n.a. --- 5q32 to 5qter	schizophrenia 1 (gene SCZD1 in 5q32-5qter)	{445}

mosaic cases

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

mosaic cases

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