TL

ChromosOmics - Database

- CHROMOSOME 16 -
- paternal UPD -

UPD MATERNAL CHR . 16	UPD unclear if maternal or paternal CHR . 16
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
16- OpU-N/ 1-1	male	prenatal	AF	46,XY	none	{1351}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- 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
16- 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
16- 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
16- OpU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- 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
16- OpU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

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

pat UPD-cases with or unclear clinical correlation + normal karyotype

for thoughts about UPD(16) see Ref 993 and 1144

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- WpU-N/ 1-1 to 1-3	n.a.	newborn	PBL	n.a.	pulmonary surfactant metabolism dysfunction 3 (gene ABCA3 in 16p13.3)	{490} patients 1 to 3
16- WpU-N/ 2-1 to 2-2	male and female	12 and 18y	PBL	n.a.	Hereditary spastic paraplegias (gene FA2H in 16q23.1)	{884; 956} 2 cases
16- WpU-N/ 3-1	female	9y	PBL	n.a.	Fanconi anemia (gene FANCA in 16q24.3)	{937} case 1
16- WpU-N/ 4-1	male	postnatal	PBL	n.a.	spastic paraplegia type 35 - SPG35 (gene FA2H in 16q23.1)	{1017}
16- WpU-N/ 5-1	female	postnatal	PBL	n.a.	congenital disorders of glycosylation (CDG)	{1240}
16- WpU-N/ 6-1	female	prenatal	AF	46,XX	congenital disorder of glycosylation (gene ALG1 in 16p13.3)	{1277}
16- WpU-N/ 7-1	female	postnatal	PBL	n.a.	Giant axonal neuropathy (gene GAN1 in 16q23.2)	{1367} 1 case
16- WpU-N/ 8-1	n.a.	postnatal	PBL	n.a.	intellectual and developmental disability (gene GPT2 in 16q11.2)	{1410}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
16- 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
16- WmU-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
16- 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
6- WpU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
6- 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
16- WpU-imb/ 1-1	n.a.	prenatal	n.a.	47,+16/46	hydrops fetalis	{399}
16- WpU-imb/ 1-2	female	prenatal	AF	47,XX,+16/ 46,XX	IUGR; mild facial abnormities, VSD, ASD	{93}
16- WpU-imb/ 1-3	female	prenatal	AF, PBL	47,XX,+16/46,XX	IUGR; bilateral pes calcaneus, normal development at 13m	{236}

mosaic cases

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