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- CHROMOSOME #21 -
NORMAL
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. |
| 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)(pter→q11.2:) | 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)(pter→q11.2:) | cenM; subcenM; LSI 21; UPD-test | AMA; child normal at 1 year of age | {0} provided from Germany |
| 21- O- q11.2/ 1-3 |
female/ 1y |
PBL (EKF- cellbank) |
de novo | 47,XX,+mar[5]/ 46,XX[20] |
min(21)(pter→q11.2:) | 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)(pter→q11.2::p10→pter) | cenM; subcenM; LSI 21 | normal child born | {0} provided from Germany |
| 21- O- q11.2/ 4-1 |
n.a./ prenatal |
AF | pat | 47,XN,+mar[30%]/ 46,XN[70%] |
r(21)(::p1?2→q11.2::) | cenM; subcenM; LSI21 | father normal; normal child born | {0} provided from Portugal |
| 21- O- q11.2/ 5-1 |
female/ 29y |
PBL | n.a. | 47,XX,+mar[70%]/ 46,XX[30%] |
der(21)(:q11.2~12→p1?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)(::p11.1→q11.2::)[3]/r(21;21)(::p11.1→q11.2: :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?11.2→q21.1:) 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)(::p11.2→q21.1::) 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 from Israel |
| 21- O- q21.1/ 2-2 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | r(21)(::p11.2→q21.1::) 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?ter→q21.1:) | 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)(pter→q21.1:) 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 |
| 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 from Germany |
| 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?1→q1?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)(?pter→q11.2) 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)(?pter→q11.1) 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 |