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

                                                  CHROMOSOME #21 -                                                 
NORMAL

 
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(21)mat UPD(21)pat UPD(21)mat or pat

Case with constitutional 46,XX,r(21)(pter→q22): developing an AML with amplification of AML1 gene located in 21q22:
Streubel B, Valent P, Lechner K, Fonatsch C. Amplification of the AML1 (CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21. Cancer Genet Cytogenet. 2001, 124:42-46.


Cases without clinical findings (O)

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
21-
O-

q10/
1-1

female/
n.a.
PBL maternal 47,XX,+mar[100%] inv dup(21)(q10) centromeric probes for 13/21 and 14/22 normal female {7} cases III2 and III3
21-
O-

q11.1/
1-1
see 21-Uc-1
21-
O-

q11/
2-1
female/
40y
PBL n.a. 47,XX,+mar[100%] inv dup(21)(q11.1)
aCGH
and FISH: positive for 21p11.2-p11.1
aCGH; FISH normal female with primary ovarian insufficiency {35} patient 4
{40} case 21-1
21-
O-

q11.2/
1-1
3 male
1 female/
adults
PBL maternal see below min(21)(pterq11.2:) wcp 21 normal; detected during chromosome analysis in the mother who suffered from a tongue cancer; sSMC with high probability not in connection with cancer! {22}
sister 1: 48,XY,+marx2[4]/47,XY,+mar[34]/46,XY[6]brother 1: 47,XY,+mar[28]/46,XY[22]brother 2: 48,XY,+marx2[4]/47,XY,+mar[34]/46,XY[6]
son of brother 2:
47,XY,+mar[3]/46,XY[96]
21-
O-

q11.2/
1-2
male/
prenatal
AF de novo 47,XY,+mar[50%]/
46,XY[50%]
min(21)(pterq11.2:) cenM; subcenM; LSI 21; UPD-test AMA; child normal at 1 year of age {0} provided by Dr. Belitz, Berlin, Germany
21-
O-

q11.2/
1-3
female/
1y
PBL
(EKF-
cellbank)
de novo 47,XX,+mar[5]/
46,XX[20]
min(21)(pterq11.2:) cenM; subcenM mild ID GGB04574F, 798
provided by Teleton foundation, Italy
21-
O-

q11.2/
2-1
male/
prenatal
PBL
(EKF-
cellbank)
de novo 47,XY,+mar[31] inv dup(21)(q11.2)
FISH-data: RP11-89H21 (14.85MB) on sSMC
break proximal of 21q1 = >6.73
cenM; subcenM;
CR-FISH;
UPD-test
AMA; sectio due to preeclampsia in week 38+3; at 1.5 y normal development - no dysmorphic signs {46} case 9
21-
O-

q11.2/
2-2
male/
prenatal
AF de novo 47,XY,+mar[8]/
46,XY[16]
inv dup(21)(q11.2)
D21S16 on sSMC - break distal from 14.5 Mb (hg18 or 19?); aCGH - no informative result
aCGH
UPD test
AMA, normal child born {44}
21-
O-

q11.2/
3-1
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(21)(pterq11.2::p10pter) cenM; subcenM; LSI 21 normal child born {0} provided by Dr. Hickmann, Düsseldorf, Germany
21-
O-

q11.2/
4-1
n.a./
prenatal
AF pat 47,XN,+mar[30%]/
46,XN[70%]
r(21)(::p1?2q11.2::) cenM; subcenM; LSI21 father normal; normal child born {0} provided by Dr. Alves, Portugal
21-
O-
q11.2/
5-1
female/
29y
PBL n.a. 47,XX,+mar[70%]/
46,XX[30%]
der(21)(:q11.2~12p1?2:
:p1?2
q11.2:)
cenM; subcenM habitual abortions {0} provided from Turkey
***
21-
O-

q11.21/
1-1
male/
35y
PBL n.a. 47,XY,+mar[100%] r(21)(::p11.1q11.2::)[3]/r(21;21)(::p11.1q11.2:
:p11.1
q11.2::)[2]/
min(21)(:p11.1
q11.2:)[3]
FISH-data: RP11-89H21 (14.85MB) on sSMC
aCGH: 13.78-16.90
cenM; subcenM;
aCGH
repeated abortions in partner, normal male {40} case 21-2
21-
O-

q21.1/
1-1
male/
prenatal
AF de novo 47,XY,+mar[?]/
46,XY[?]
min(21)(:p?11.2q21.1:)
FISH-data: RP11-89H21 (14.85MB) on sSMC
wcp probes; subcenM; UPD-test AMA; ultrasound normal; child born in week 38; weight 3000g; length 51cm; phenotypically normal; normal at 3w and 1 y {13} case 21-4
21-
O-

q21.1/
2-1
female/
adult
PBL n.a. 47,XX,+mar[100%] r(21)(::p11.2q21.1::)
FISH-data: RP11-89H21 (14.85MB) on sSMC
aCGH: 13,342,486-15,777,892 MB
cenM; subcenM; LSI21 normal female, sSMC also present in unborn child {0} provided by Dr.Zivi Borochowitz; Israel
21-
O-

q21.1/
2-2
male/
adult
PBL n.a. 47,XY,+mar[100%] r(21)(::p11.2q21.1::)
FISH-data: RP11-89H21 (14.85MB) on sSMC
cenM; subcenM; LSI21
aCGH (Israel)
normal male, repeated abortions in female partner
{10}
{13} case 21-3
{21} case 99
{24} case 32
{40} case 21-3
21-
O-

q21.1/
2-3
male/
prenatal
AF pat 47,XY,+mar[100%] mar(21)(p?terq21.1:) NGS father normal, normal child born {42} case 1
21-
O-

q21.1/
2-4
female/
25y
PBL n.a. 47,XX,+mar[11]/
46,XX[4]
min(21)(pterq21.1:)
aCGH - positive for centromere near 21q - data n.a.
aCGH, subcenM
normal, infertile {0} provided from Greece
***
21-
O-

q21.1/
3-1
male/
prenatal
AF mat
(sSMC in 11/50)
47,XY,+mar[14]/
46,XY[16]
inv dup(21)(q21.1)
arr(hg19) - break:
18,864,186
aCGH
moher normal, normal child at 3y
{55} case 9

O-Cases with similar imbalances NOT caused by sSMC (O-IMB)

case no.
gender/
age at diagnosis

studied
material

de novo/
Inherited

GTG-banding and final FISH result test
methods

clinical symptoms
Reference
21-
O

IMB
q11.2/
1-1
female/
27y
PBL n.a. 46,XX,inv(9)(p12q21.11),der(21)(pter→p12::q11.2→p12::p12→qter) subcenM normal, infertile {0} provided by Dr. Belitz, Berlin, Germany

O-cases with unclear/insufficient characterization of the sSMC (CO)

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
21-
CO-
1
male/
prenatal
AF de novo 47,XY,+mar[26]/
46,XY[7]
r(21)(::p1?1q1?1::)* centromeric probes; wcp 13, 21 AMA, normal ultrasound, normal child at 2y {12} case 25
21-
CO-
2
male/
prenatal
AF
n.a.
47,XY,+mar[60%]/
46,XY[40%]
mar(21)(?pterq11.2)
aCGH: 13.55-14.33 MB
aCGH AMA, normal at birth {38} case 31
21-
CO-
3
male/
prenatal
AF
n.a.
47,XY,+mar[100%] mar(21)(?pterq11.1)
aCGH: 10.01-10.12 MB
aCGH AMA, normal at birth {38} case 32
21-
CO-
4
n.a./
postnatal
PBL

n.a.
47,XN,+mar[?%] min or r(21) cep, wcp normal, infertile
{58} 1 case