ChromosOmics - Database
tl_files/tiny_templates/Bilder TL/sSMC-book.jpg tl_files/tiny_templates/Bilder TL/hetmorh-book.jpg

                                                  -  CHROMOSOME #4 -                                                 
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
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(4)mat UPD(4)pat UPD(4)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
04-
U-
1		 see 04-Uu-1
see +21-U-1

04-
U-
2		 male/
2y		 PBL
cell line at ECACC DD1329		 de novo 47,fra(X)(q27.3)Y,+mar[8]/
46,fra(X)(q27.3)Y[42]		 mar(4).ish(cep+;wcp-) all centromeric probes; wcp 4 no physical abnormalities at 2y but language and other development moderately delayed; fragile X syndrome {12} case 3
04-
U-
3		 male/
prenatal		 AF de novo 47,XY,+mar[10]/
46,XY[9]		 inv dup(4)(:p11.1→q12:) cenM
subcenM; UPD-test		 Amniocentesis due to AMA; no ultrasound abnormalities; pregnancy terminated {1} case 9
04-
U-
4		 female/
prenatal		 Amnion
cell line at ECACC DD0068		 de novo 47,XX,+mar[27%]/
46,XX[73%]		 min(4) all centromeric probes; wcp 4; UPD-test Amniocentesis due to AMA; pregnancy terminated; mar present in fetal tissue, no clinical details available on fetus {3} case 3
{15} case 2
04-
U-
5		 see mult 2-18 {24} case MK
{25} case 15
04-
U-
6
 female/
prenatal		 AF de novo 47,XX,+mar[20]/
46,XX[13]		 r(4)(::p11→q11:) centromeric probes Amniocentesis due unclear MR of brother of father of the child. Normal ultrasound; TOP and in autopsy no anomalies. {21} case 35
04-
U-
7		 male/
newborn		 PBL de novo 47,XY,+mar[100%] r(4)(::p11→q12::)[8]/
r(4;4)(::p11→q12::p11→q12::)[2]		 cenM; subcenM cerebellar atrophy, agranulocytosis, lymphocytosis; Hematuria, DD; cobalamnin-C-defect (homozygote c271dupA mutation in MMACHC gene in 1q34.1) {0} provided by Dr. A. Dufke, Tübingen, Germany
04-
U-
8
 female/
prenatal
AF		 n.a. 47,XX,+mar[100%] min(4)(:p11→q11:) cep probes, BACs {see 35} MLPA AMA {35} case 2
04-
U-
9
 see 04-Uc-1
04-
U-
10
 see 04-Uc-2
04-
U-
11
 see 04-Uu-2
04-
U-
12
 male/
prenatal		 AF n.a. 47,XY,inv(16)(q12q24),+mar[100%] min(4)(:p11→q12:) cenM/
subcenM		 n.a. {0} provided by Dr. Stumm, Berlin, Germany
04-
U-
13
 male/
prenatal		 AF de novo 47,XY,+mar[20%]/
46,XY[80%]		 min(4)(:p12→q12:) cenM/
subcenM		 AMA, TOP, autopsy normal {0} provded by Dr. Joksik, Belgrade, Serbia
04-
U-
14
 male/
prenatal		 AF de novo 47,XY,+mar[30]/
46,XY[9]		 mar(4)(:p12→q13.1:)
array (hg19):
46214008-60186304
 aCGH TOP {48} case 4
04-
U-
15
 male/
prenatal		 AF de novo 47,XY,+mar[100] mar(4)(:p11→q12:)
array (hg19): break in
59.167217Mb		 aCGH TOP {49}

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
04-
Uc-
1 		female/
1y 		PBL n.a. 47,XX,+mar[100%] min(4)t(4;7)(q12;p22.1)
array-data: break on #4 position 52.38 and #7 position 7.06 		diff. FISH-probes; aCGH Plagiocephaly, optic nerve hypoplasia, hearing loss, hip dysplasia, and short stature. {38} case 1
{42}
04-
Uc-
2 		female/
newborn 		PBL mat
t(4;9) 		47,XX,+mar[100%] min(4)t(4;9)(q12;p21.2)
array-data: break on #4 position 54.42 and #9 position 27.24 		diff. FISH-probes; aCGH severe physical clincal signs; child died with 8 months {39; 42}

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
04-
Ud-
1
female/
prenatal 		AF pat (low mosaic; sib also with sSMC) 47,XX,+mar[100%] min(4)(:p11→q12:
:q13.2→q13.2:)
aCGH (hg19)
52.68-55.51 and 67.24-69.19 		aCGH; locus specific FIS father normal, sib normal, normal child born {46}
04-
Ud-
2
male/
n.a. 		PBL de novo 47,fra(X)(q27.3)Y,+r[30]/
47,fra(X)(q27.3)Y[70] 		r(4)(::p14→p13::p10→ q10::q31.1→q31.3::) all centromeric probes; wcp 4; midi; YAC probes as specified in {13} see below {13} case A
{14} case19
moderate MR; minor anomalies, like macrocephaly, plagiocephaly, brachycephaly, epicanthic folds, flat midface with relative prognathism, malocclusion, high arched palate, hypoplastic ala nasi, thin upper lips, short and broad neck, small hands and feet; fragile X-syndrome.
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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
04-
Uu-
1
also listed as
+21-
04-
1 		male/
1m 		PBL de novo 48,XY,+21,+mar[28]/
47,XY,+21[7] 		min(4)(:p12→q11:)
partial maternal iso-UPD 4p16 		cenM
subcenM; UPD-test 		Down-syndrome {1} case 10
{2; 41}
04-
Uu-
2 		n.a./
postnatal 		PBL n.a. n.a. mar(4)(:p13→q12:)
hg19:44.45–57.26Mb
also (partial) (i)UPD 4 		aCGH most likely dymorphic and MR {44} 1 case