ChromosOmics - Database

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                                                  -  CHROMOSOME #13/21 -                                                 
UNCLEAR


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
13/21-
U-
1		 n.a./
n.a.		 n.a. n.a. n.a. mar(13 or 21) n.a. n.a. {17}
13/21-
U-
2		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(13 or 21) FISH with all available centromeric probes AMA; no information about pregnancy outcome {10} case 6
13/21-
U-
3		 n.a./
prenatal		 AF n.a. n.a. min(13or21)(pter→q10:) acro M n.a. AMA, ; no information about pregnancy outcome {9} case 4
13/21-
U-
4		 female/
5m		 PBL de novo 47,XX,r(13)(p11q34),+mar[100%] min(13 or 21) centromeric probe 13/21 delay of growth and development plus dysmorphic features "in concordance with a del(13qter) genotype" {12; 13}
13/21-
U-
5		 see mult 2-12
13/21-
U-
6
 see mult 2-13
13/21-
U-
7
 male/
prenatal		 AF de novo 47,XY,+mar[30%]/
46,XY[70%]		 inv dup(13 or 21)(q10) FISH with all available centromeric probes AMA; child normal in ultrasound {16} case 2
13/21-
U-
8
 see 13/21-der(18)-1
13/21-
U-
8a
see 13/21-der(18)-2
13/21-
U-
8b
 see 13/21-der(18)-3
13/21-
U-
8c
 see 13/21-der(18)-4
13/21-
U-
8d
see 13/21-der(18)-5
13/21-
U-
8e
 see 13/21-der(18)-6
13/21-
U-
8f
 see 13/21-der(18)-7
13/21-
U-
8g
see 13/21-der(18)-8
13/21-
U-
9 to
11		 n.a./
n.a.		 n.a. n.a. 47,+mar[?] mar(13 or 21) all centromeric probes n.a. {26} 3 cases
13/21-
U-
12		 male/
prenatal		 AF de novo 47,XY,+mar[14]/
46,XY[3]		 inv dup(13 or 21)(q10) acro-cenM;
subcenM; UPD-test		 AMA; no ultrasound abnormality in week 22; no further Information available. {0} provided by Dr. Schleussner,
Jena, Germany
13/21-
U-
13		 male/
prenatal		 AF de novo 47,XY,+mar[17]/
46,XY[7]		 inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM;
subcenM;
UPD-test		 AMA; too much amniotic fluid and pyelon enlargement, patient lost during follow up {0} provided by Dr. Kistner, Schwerin, Germany
13/21-
U-
14		 female/
prenatal
AF		 n.a. 47,XX,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) cenM;
subcenM		 AMA; patient lost during follow up {0} provided by Carme Fuster, Barcelona, Spain
13/21-
U-
15		 female/
prenatal
AF		 n.a. 47,XX,+mar[12]/
46,XY[6]		 inv dup(13)(q11) or inv dup (21)(q11.1) cenM;
subcenM		 AMA; patient lost during follow up {0} provided by Carme Fuster, Barcelona, Spain
13/21-
U-
16		 n.a./
prenatal		 AF de novo 47,+mar[?%] mar(13 or 21) n.a. n.a.
{29}
13/21-
U-
17		 female/
prenatal		 AF de novo 47,XX,+mar[100%] min(13) (pter→q11~12.1:) or min(21)(pter→q11.1:) centromeric probes;
subcenM		 AMA; patient lost during follow up {0} provided by Dr. Basaran (Turkey)
13/21-
U-
18 to
21		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(13 or 21) centromeric probes patient lost during follow up or terminated {30} cases 28-29, 33, 36
13/21-
U-
22		 female/
prenatal		 AF n.a. 47,XX,+mar[15] inv dup(13 or 21)(q10) centromeric probes, subcenM AMA, patient lost during follow up or terminated {0} provided by Drs. Krause and Plonka, Potsdam, Germany
13/21-
U-
23		 female/
stillborn		 PBL n.a. 47,XX,+mar[100%] mar(13 or 21) cen13/21 normal at autopsy {19} case 10
13/21-
U-
24		 female/
prenatal		 AF de novo 47,XX,+mar[100%] mar(13 or 21) cen13/21 normal at autopsy {23} case 9
13/21-
U-
25 to
26		 n.a./
n.a.		 n.a. n.a. 47,+mar[?%] mar(13 or 21) n.a. normal at autopsy {33} 2 cases
13/21-
U-
27		 see 13/21-U-8b {32}
13/21-
U-
28		 see 13/21-U-8c {0}
{36}
{41} case 16
13/21-
U-
29 to 30		 n.a./
n.a.		 n.a. n.a. 47,+mar[?%] mar(13 or 21) centromeric probes no info available {45} 2 cases
13/21-
U-
31		 n.a./
prenatal		 AF n.a. 47,+mar[?%] mar(13 or 21) SKY, cep probes no info available {37} 1 new case
13/21-
U-
32		 n.a./
postnatal		 AF n.a. 47,+mar[24%]/
46[76%]		 mar(13 or 21) n.a. subcenM with 3 BACs
Mild dysmorphic features; normal head ultrasound; normal renal ultrasound; normal development at 6 months of age		 {38} case 26
13/21-
U-
33		 n.a./
prenatal		 AF n.a.
47,+mar[?%]		 mar(13 or 21) n.a. n.a. {44} 1 case
13/21-
U-
34		 see +15-13/21-1 {0} provided by Dr. Petersen, Athens, Greece
13/21-
U-
35		 see +0Xm-13/21-1 {46} case 8
13/21-
U-
36		 female/
prenatal		 AF n.a. 47,XX,+mar[40%]/
46,XX[60%]		 inv dup(13 or 21)(q10) acro-cenM;
subcenM		 AMA - no further info available {0} provided by Dr. Belitz , Berlin, Germany
13/21-
U-
37		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM		 white spot in sonography, no further info {0} provided by Dr. Kobelt, Chemnitz, Germany
13/21-
U-
38		 female/
prenatal		 AF n.a. 47,XX,+mar[50%]/
46,XX[50%]		 min(13)(:p11.1→q11:) or min(21)(:p11.1→q11.1:) cenM;
subcenM		 AMA, no further info {0} provided by Dr. Mehnert, Neu-Ulm, Germany
13/21-
U-
39 		female/
prenatal 		AF n.a. 47,XX,+mar[100%]
inv dup(13 or 21)(q10) 		acro-cenM;
subcenM 		no further info {0} provided by Dr. M.B. Petersen, Athens, Greece
13/21-
U-
40 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] r(13)(:p11.2→q11:) or r(21)(:p11.2→q11.1:) acro-cenM;
subcenM 		no further info {0} provided by Dr. Alves, Portugal
13/21-
U-
41 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM 		AMA, no further info {0} provided by Dr. Bartels, Göttingen, Germany
13/21-
U-
42 		male/
prenatal 		AF n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM 		AMA, no further info {0} provided by Dr. Alves, Portugal
13/21-
U-
43 		n.a./
prenatal 		AF n.a. 47,XN,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM 		AMA, no further info {0} provided by Dr. Borochowitz, Israel
13/21-
U-
44 		female/
prenatal 		AF n.a.
47,XX,+mar[50%]/
46,XX[50%] 		min(13)(pter→q11:) or min(21)(pter→q11.1:) acro-cenM;
subcenM 		AMA, no further info {0} provided by Dr. Alves, Portugal
13/21-
U-
45 		female/
prenatal 		AF n.a. 47,XY,+mar[13]/
46,XY[2] 		inv dup(13 or 21)(q10) acro-cenM;
subcenM 		AMA, no further info {0} provided by Dr. Alves, Portugal
13/21-
U-
46 		female/
prenatal 		AF n.a. 47,XX,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM 		AMA, no further info {0} provided by Dr. Huhle, Leipzig, Germany
13/21-
U-
47 		male/
prenatal 		AF de novo 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM 		AMA, no further info {0} provided by Dr. Alves, Portugal
13/21-
U-
48 		n.a. AF n.a. n.a. mar(13 or 21) cep probes n.a. {54} 1 case
13/21-
U-
49 		male/
prenatal		 AF n.a. 47,XY,+mar[5]/
46,XY[73] 		min(13)(pter→q11:) or min(21)(pter→q11.1:) acro-cenM;
subcenM 		AMA, no further info {0} Dr. Alica Valachova, Trencin, Slovakia
13/21-
U-
50 		see mult 2-48
13/21-
U-
51 		n.a./
prenatal 		PBL n.a. 47,XN,+mar[100%] inv dup(13 or 21)(q10) acro-cenM AMA {0} provided by Dr.Vesic, Belgrade, Serbia
13/21-
U-
52 		male/
prenatal 		AF n.a. 47,XY+mar[17]/
46,XY[33] 		inv dup(13 or 21)(q10) acro-cenM AMA {0} provided from Leipzig, Germany
13/21-
U-
53 		male/
prenatal 		AF n.a. 48,XY,+mar1+mar2[24]/
46,XY[44] 		inv dup(13 or 21)(q10) acro-cenM AMA {0} provided from Würzburg, Germany
13/21-
U-
54 		female/
prenatal 		AF n.a. 47,XX,+mar[10]/
46,XX[40] 		inv dup(13 or 21)(q10) acro-cenM n.a. {0} provided from Greece
13/21-
U-
55 		male/
newborn 		PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM DD and DYS {0} provided from Tübingen, 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
13/21-
Uc-
1 		female/
adult 		PBL
cell line at ECACC DD1175 		maternal 47,XX,+mar[27]/
46,XX[4] 		dic(13 or 21;14)(q10;q10)* all available centromeric probes mother and daughter both adult and normal, Daughter was studied due to history of miscarriages {19} case 26
{39} case 107
{52}
13/21-
Uc-
2
 		female/
prenatal 		AF maternal 47,XX,+mar[100%] dic(13 or 21;15)(q10;q10)* centromeric probes mother normal and child normal at 5 y {28} case 6; {52}
13/21-
Uc-
3
 		male/
adult 		PBL
sperm 		n.a. 46,XY,t(13;21)(q11;q11.1)
leeds to der(13;21) in offspring		 n.a. normal male, infertile {57} 1 case
13/21-
Uc-
4
 		male/
adult 		PBL
 		n.a. 46,XY,t(13;14)(q10;p11.1)
leeds to der(13;14) in offspring		 n.a. normal male, infertile {0} provided from Spain

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
13/21-
Ud-
1 		-
 -
 -
 -
 -
 -
 -
 -

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
13/21-
Uu-
1 		-
 -
 -
 -
 -
 -
 -
 -