TL

ChromosOmics - Database

- CHROMOSOME 9 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 9	UPD PATERNAL CHR . 9
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 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
09- OmU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- OmU-bal/ 1-1	female	34y	PBL	46,XX,i(9)(p10),i(9)(q10)	normal woman, repeated abortions	{108}

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
- 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
09- OmU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- OmU-imb/ 1-1	female	prenatal	AF	AF 47,XX,+9[4]/46,XX[35] PBL 46,XX	normal child born	{1435}
09- OmU-imb/ 1-2	male	prenatal	AF	AF 47,XX,+9[2]/46,XX[23] PBL 46,XX	normal child born	{1478}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- WmU-N/ 1-1	male	12th week of gestation	placenta	46,XY	spontaneous abortion in week 12; at week 10 growth retardation	{183} case 1
09- WmU-N/ 2-1 to 2	females	newborn/ childhood	PBL	46,XX	cartilage-hair hypoplasia (gene RMRP in 9p13.3)	{342} cases 1 and 2
09- WmU-N/ 3-1	female	stillborn twins	PBL	46,XX	Leigh syndrome, due to COX deficiency (gene SURF1 in 9q34.2)	{352}
09- WmU-N/ 4-1	female	newborn	PBL	46,XX	cleft palate, VSD, hip subluxation, dysmorphic face; (neonatal diabetes mellitus and) congenital hypothyroidism (gene FOXE1 in 9p22.33)	{575, 576}
09- WmU-N/ 5-1	male	34y	PBL	46,XY (trisomy 9 mosaic excluded in blood and buccal smear)	see below	{676}
09- WmU-N/ 5-1	renal failure because of IgA nephropathy, hypothyroidism, short stature with overweight, hypercholesterinemia, hypertriglyceridemia and, hyperuricemia; dislocation of patella, atopic eczema, eye problems (strabism, nystagmus, myopic astigmatism), inguinal hernias and umbilical hernia as an infant. Since infancy a disproportional large distended abdomen was noted with unidentified cause. At the age of about 15 years some hearing problems on the left side were noted.
09- WmU-N/ 6-1	male	postnatal	PBL	n.a.	sarcosinemia (SARDH gene in 9q34.2)	{694} family F, case II-3
09- WmU-N/ 7-1	n.a.	postnatal	PBL	n.a.	Abnormality of the heart, lobal DD. specific learning disability, abnormality of prenatal development or birth	{763} case 260453
09- WmU-N/ 8-1	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
09- WmU-N/ 9-1	n.a.	postnatal	PBL	n.a.	details n.a. found in a cohort of children with inborn heart disease heterodisomy	{1066}
09- WmU-N/ 10-1	n.a.	postnatal	PBL	n.a.	Multiple Craniosynostosis and Facial Dysmorphisms	{1207}
09- WmU-N/ 11-1	female	postnatal	PBL	n.a.	congenital disorders of glycosylation (CDG)	{1239}
09- WmU-N/ 12-1	female	9y	PBL	n.a.	N-acetylneuraminic acid synthetase-congenital disorders of glycosylation (gene NANS in 9q22.33)	{1439} case 2

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- 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
09- WmU sSMC/ 1-1	09- W-p12/ 1-1	female/ ?	PBL	47,XX,+mar[36%]/ 46,XX[64%]	r(9)(::p12→q10::)	midi	see below	{13} case L {14} case D {15} case 4
09- WmU sSMC/ 1-1	Born at week 39 by cesarean section; birth weight: 2900g, length: 49cm; had moderate mental retardation and speech delay, but no obvious DYS.

segmental mat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- WmU-seg/ q11/ 1-1	male	3y	PBL	46,XY --- 9q11 to 9qter	Leigh syndrome, due to COX deficiency (gene SURF1 in 9q34.2)	{362}
09- WmU-seg/ q11.1 to qter/ 1-1	female	4.5y	PBL	46,XX. --- 9q11.1 to 9qter	Friedreich ataxia (gene FXN in 9q21.11)	{1592}
09- WmU-seg/ q34.3 to qter/ 1-1	female	8y	PBL	n.a. --- 9q3?4.3 to 9qter	Invasive Exophila infection (gene CARD9 in 9q34.3)	{831}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- WmU-imb/ 1-1	female	prenatal	CH, AF, PBL	47,XX,+9/46,XX	no DD; minor facial DYS and skeletal abnormalities	{329}
09- WmU-imb/ 1-2 to 3	male and female	prenatal	CH, AF	47,XN,+9/46,XN	TOP in both cases	{361} cases 3 and 7
09- WmU-imb/ 1-4	female	prenatal	CH, placenta; different tissues	47,XX,+9/46,XX	TOP	{381}
09- WmU-imb/ 1-5	male	17y	PBL	47,XY,+9/46,XY	DYS, MR	{382}
09- WmU-imb/ 1-6	female	prenatal	AF	mos 47,XX,+9/46,XX	see below	{552}
09- WmU-imb/ 1-6	AMA; TOP; malformed fetus born: clenched hands, hypertelorism, a large forehead, bilateral epicanthal folds, a broad nasal bridge, low-set posteriorly rotated ears, a thin upper lip, micrognathia, and a short neck
09- WmU-imb/ 1-7	n.a.	prenatal	CH	mos 47,+9/46	n.a.	{619} case 24
09- WmU-imb/ 1-8	female	3m	PBL	47,XX,+9[4]/46,XX[96]	congenital heart defect including VSD, pigmentary skin lesions along the lines of Blaschko, dysmorphic face, microcephaly	{648}
09- WmU-imb/ 1-9	n.a.	6y	PBL	46,XN,der(9)(pter→p21.3: :p22.3→qter) in aCGH dup: 15.48-25.14 Mb UPD(9)seg: 9pter→9p36.33 in aCGH: 0-15.50 Mb	n.a.	{858} case 130

mosaic cases

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