TL

ChromosOmics - Database

- CHROMOSOME 4 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 4	UPD PATERNAL CHR . 4
UPD-cases without clinical findings + normal karyotype	UPD-cases with or unclear clinical correlation + normal karyotype
UPD-cases without clinical findings + balanced karotype	UPD-cases with or unclear clinical correlation + balanced karotype
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
04- OmU-N/ 1-1	female	prenatal	AF	46,XX	no clinical signs at 1y; detected due AMA	{914}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- 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
04- OmU-bal/ 1-1	female	adult	PBL	46,XX,i(4)(p10),i(4)(q10)	normal woman with repeated abortions	{101}

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
04- 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
04- OmU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- 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
04- OmU-imb/ 1-1	male	prenatal	CH, amnion	CH: 47,XY,+4 Amnion: 46,XY	normal at birth and at 4 years	{0}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- 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
04- WmU-N/ 1-1	female	adult	PBL	n.a.	detected during a screening for mood disorders or schizophrenia. Here major depressive disorder; gene n.d.	{265}
04- WmU-N/ 1-2	male	10y	PBL	n.a.	mild MR, no DYS, slight speech delay; gene n.d., even though iUPD	{891}
04- WmU-N/ 2-1	female	>1y	PBL	n.a.	Congenital afibrinogenaemia (gene FGA in 4q31.3)	{335}
04- WmU-N/ 3-1	male	~1y	PBL	n.a.	Limb-girdle muscular dystrophies (gene SGCB in 4q12)	{614}
04- WmU-N/ 4-1	male	neonatal	PBL	n.a.	Autosomal dominant polycystic kidney disease (gene PKD2 in 4q22.1)	{650 = 893}
04- WmU-N/ 5-1	male	11y	PBL	46,XY	Severe hypodysfibrinogenaemia (gene FGB in 4q31.3)	{693}
04- WmU-N/ 6-1	male	2m	PBL	n.a.	Abetalipoproteinemia (gene MTTP in 4q23)	{892} case 2
04- WmU-N/ 7-1	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
04- WmU-N/ 8-1 to 8-2	n.a.	postnatal	PBL	n.a.	details n.a. found in a cohort of children with inborn heart disease heterodisomy	{1066} 2 cases
04- WmU-N/ 9-1	female	9m	PBL	n.a.	LRBA-deficiency (gene LRBA in 4q31.3) unclear if segmental iUPD or iUPD/hUPD	{1115}
04- WmU-N/ 10-1	male	20y	PBL	n.a.	Normosmic congenital hypogonadotropic hypogonadim (gene GNRHR in 4q13.2)	{1129}
04- WmU-N/ 11-1	male	newborn	PBL	n.a.	autosomal recessive Mucopolysaccharidosis type I (MPS I) = Hurler syndrome (gene IDUA in 4p16.3)	{1260}
04- WmU-N/ 12-1	female	postnatal	PBL	n.a. terminal iUPDs	Wolfram syndrome (gene WFS1 in 4p16.1)	{1330}
04- WmU-N/ 13-1	female	14y	PBL	n.a.	Retinal Dystrophy (gene SRD5A3 in 4q12)	{1433} case 1

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- 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
04- WmU- bal/ 1-1	female	4y8m	PBL	46,XX,inv(4)(pl5.2ql2)mat, inv(4)(pl5.2ql2)mat	developmental and language delay	{407}

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
04- WmU-sSMC/ 1-1	04- U-1	male/ 1m	PBL	48,XY,+21,+mar[28]/ 47,XY,+21[7]	min(4)(:p12→q11:)	cenM subcenM partial maternal iso-UPD 4p16:	typical Down-syndrome	{4} case 10 {5}

segmental mat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- WmU-seg/ pter/ 1-1	see 04-WmU-sSMC/1-1
04- WmU-seg/ pter/ 2-1	female	postnatal	PBL	n.a. --- 4pter to 4p15.1	Ellis-van Creveld syndrome (gene EVC in 4p16.2)	{354}
04- WmU-seg/ pter/ 3-1	n.a.	postnatal	PBL	n.a. --- 4pter to 4p10	Wolfram syndrome (gene CISD2 in 4q24)	{410}
04- WmU-seg/ pter/ 4-1	male	1y	PBL	n.a. --- 4pter to 4p15.3	autosomal recessive lysosomal disorder - Hurler disease (gene IDUA in 4p16.3)	{1166} patient A
04- WmU-seg/ q11/ 1-1	female	29y	PBL	46,XX --- 4q11~21 to 4qter	Abetalipoproteinemia (gene MTTP in 4q23)	{391}
04- WmU-seg/ q26/ 1-1	female	8m	PBL	n.a. --- 4q26 to 4q35.2	Methylmalonic acidemia (gene MMAA in 4q31.1‐q31.2)	{1201}
04- WmU-seg/ q26/ 1-2	male	postnatal	PBL	n.a. --- 4q26 to 4q34.1	Methylmalonic acidemia (gene MMAA in 4q31.1‐q31.2)	{1418}
04- WmU-seg/ q31/ 1-1	female	1y	PBL	n.a. --- 4q31-32	bilateral cleft lip and palate, and no other noticeable abnormalities (gene PDGF-C in 4q32.1)	{715}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
04- 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
04- WmU-imb/ 1-1	female	prenatal	chorion AF	47,XX,+4/46,XX in chorion 46,XX in AF	IUGR; fetal death at 30th week; no external malformations	{241} case CPM4-1, {462}
04- WmU-imb/ 1-2	n.a.	prenatal	PBL	46,XN,+4 acc. to NIPT	TOP	{1389} case 108

mosaic cases

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