ChromosOmics - Database

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                                                  -  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 (uniparental disomy) cases: UPD(10)mat UPD(10)pat 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
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 by Dr. Kunz, Berlin, 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 Essen, 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 Aachen, 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}