TL

ChromosOmics - Database

Icon by Leon Liehr

- CHROMOSOME #10 -
UNCLEAR

Cases without clinical findings	Similar imbalances – no sSMC
Cases with clinical findings	Similar imbalances – no sSMC
Cases without clear clinical correlation	Cases with discontinous sSMC
Cases with complex sSMC	Cases with UPD and sSMC
Cases with neocentromeres	Similar imbalances - no sSMC
Tumor	DISCLAIMER

In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!

UPD(10)mat or pat

Cases with unclear clinical correlation (U)

case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	Reference
10- U- 1	see mult 2-7							{1} case 35
10- U- 2	see 10-Uu-1
10- U- 3	n.a./ prenatal	AF	n.a.	47,+mar[?%]	mar(10)	SKY	no info available	{25} 1 new case
10- U- 4	n.a./ prenatal	AF	mother has balanced rearrangement (involved. chr. 10)	47,+mar[100%]	mar(10)	wcp 10, cep 10	see below	{36} case 7
10- U- 4	sonographic malformations; Bilateral pyelectasy short femurs, clubfeet, pleural effusion; fetopathology: facial dysmorphism: hypertelorism, microphthalmos, low-set ears, microretrognathism, cleft palate, short femurs, clenched hands, clubfeet; pyelectasy
10- U- 5	female/ prenatal	AF	n.a.	47,XX,+mar[100%]	min(10)(:p11.21→q11.22:)	cenM; subcenM	n.a.	{0} provided from Germany
10- U- 6	see 10-Uc-1
10- U- 7	female/ prenatal	AF	de novo	47,XX,+mar[24]/ 46,XX[15]	min(10)(:p11.21->q11.21:)	cenM; subcenM	NIPT positive for partial trisomy 15q (turned out to be interstitial dupl)	{0} provided from Germany
10- U- 8	female/ 4y	PBL	n.a.	47,XX,+mar[29]/ 46,XX[8]	min(10)(:p11.1->q11.1:)	cenM; subcenM	DD, DYS	{0} provided from Germany

Cases with complex sSMC (Uc)

case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	Reference
10- Uc- 1	male/ 14y	PBL	de novo	47,XY,+mar[8]/ 46,XY[17]	der(10)t(6;10) (6q23.3;10p11.1) aCGH: chr6:102.5-133.8MB chr10:35.5-39.1Mb	aCGH UPD (15) test	PWS-like	{48}

Cases with discontinous sSMC (Ud)

case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	Reference
10- Ud- 1	male/ child	PBL	n.a.	47,XY,+r[24]/ 46,XY[6]	neither given as karyotype nor as molecuar data; Figure states 2 regions of 10p15.1 to 10p13.1 neocentric with segmental duplication	FISH, aCGH, NGS	mild MR	{58} case 2

Cases with UPD (Uu)

case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	Reference
10- Uu- 1	female/ prenatal	CH/AF/ fibroblasts	de novo	47,XX,+mar[15]/ 46,XX[2] AF: 17:3; fibroblasts: 4:6	min(10)(:p12.31→q11.1:) maternal UPD 10	midi, UPD-test	AMA; twin of patient was death at 13 weeks of gestation; no abnormalities in patient in ultrasound; pregnancy terminated in week 18; no abnormalities in autopsy	{16, 45}