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- CHROMOSOME #21 -
UNCLEAR
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
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- U- 1 |
female/ prenatal |
CH | de novo | 47,XX,+mar[9]/ 46,XX[6] |
min(21) in later performed amniocentesis 47,XX,+21 |
different
FISH probes: D13/21Z1 |
CVS due to
advanced fetal nuchal translucency of 7.6
mm. Down-syndrome |
{3} case 1 |
| 21- U- 2 |
see 21-Uc-2 | |||||||
| 21- U- 3 |
male/ prenatal |
AF | de novo | 47,XY,+r[32]/ 46,XY[18] |
r(21)(::p10→q22.?::)* | all available centromeric probes; wcp 21 | Amniocentesis due to raised serum screen risk; TOP | {6} case 25 |
| 21- U- 4 |
male/ prenatal |
AF/fetal tissue | de novo | 47,XY,+21[25]/ 47,XY,+mar[34]/ 46,XY[41] |
min(21) (wcp21+,cep13/21+) | cep 13/21; wcp21 |
AMA, TOP as Down-syndrome mosaic symptoms were expected; post-mortem examination did not show any abnormalities | {9} |
| 21- U- 5 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | min(21)(:p11.2→q11.2:)[1]/ inv dup(:p11.1→q11.2: :q11.2→p11.1:)[1]/ dic(21)(:q11.2→p11.1: :q11.2→p11.1:)[3]/ dic(21)(:p11.1→q11.1: :p11.1→q11.2:)[2] |
cenM/ subcenM |
Prenatal diagnosis. Indication was a previous pregnancy with triploidy. No echographic indication and no follow-up available | {0} provided from Belgium |
| 21- U- 6 |
see mult 2-21 | |||||||
| 21- U- 7 |
see 21-Uc-3 | |||||||
| 21- U- 8 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | min(21)(pter→q21.1:)* distal marker on sSMC RP11-143A3 (18.24 MB) |
aCGH FISH | abnormal ultrasound findings and AMA; child born; no info available | {18} case 3 {29}case 5 |
| 21- U- 9 |
female/ prenatal |
AF | de novo | 47,XX,+mar[50%]/ 46,XX[50%] |
min(21)(pter→q11.2~21.1:) | cenM; subcenM; LSI 21 | AMA; plexus cysts; TOP; in autopsy normal apart from hypertelorism | {0} provided from Germany |
| 21- U- 10 |
female/ 13y |
PBL | n.a. | 47,XX,+mar[8]/ 46,XX[22] |
min(21)(pter→q11.2~21.1:) | cep probes; subcenM; LSI 21 | n.a. | {0} provided from Germany |
| 21- U- 11 |
female/ prenatal |
AF/PBL | de novo | 47,XX,del(21(q22),+mar[22]/ 46,XX,del(21)(q22)[7]/ 46,XX,-21,+mar[5]/ 45,XX,-21[4] |
min(21)(pter→q11.2:) | FISH with LSI 21 and AML1; aCGH | see below | {31} |
| AMA; at birth lenght 46 cm (-2.74 SD), weight 2240 g (-4.4 SD), head circumference 31 cm (-3.16 SD). APGAR scores 1/8/9. High nasal root, downslanting palpebral fissures, retrogenia, posterior rotated, slightly low-set ears, a long philtrum, and a thin upper vermillion were noticed. The fingernails were small. A sacral dimple was observed. Cerebral ultrasound showed a missing septum pellucidum. Major problem was feeding, most probably due to sucking weakness and a lack of coordination so that a feeding tube had to be placed. | ||||||||
| 21- U- 12 |
female/ prenatal |
AF | de novo | 47,XX,+mar[13]/ 46,XX[6] |
min(21)(pter→q11.2~21:) | cenM, subcenM, LSI 21 (not on sSMC) | AMA; lost during follow-up | {0} provided from Germany |
| 21- U- 13 |
female/ 11y |
PBL | n.a. | 47,XX,+r[100%] | r(21) | SKY | dermatitis, acquired acanthosis nigricans | {36} case F067630 |
| 21- U- 14 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[100%] | min(21)(pter→q11.2:) | cenM, subcenM | AMA | {0} provided from Germany |
| 21- U- 15 |
see 21-Uc-4 | |||||||
| 21- U- 16 |
see 21-Uc-5 | |||||||
| 21- U- 17 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[100%] | mar(21)(:q11.2→q21.1:) arr[hg19]15.48-21.70 Mb | aCGH | n.a. | {0} provided from Portugal |
| 21- U- 18 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[60%]/ 46,XY[40%] |
del(21)(q11.2) or min(21)(:p11.2→q11.2) | cenM; subcenM |
AMA | {0} provided from Germany |
| 21- U- 19 |
n.a./ prenatal |
AF | n.a. | 47,XN,+21[5%]/ 47,XN,+mar[10%]/ 46,XN[85%] |
min(21)(:p11.1→q22.13:) | cenM; subcenM |
AMA | {0} provided from Portugal |
| 21- U- 20 |
female/ prenatal |
AF/ CH | de novo | 47,XX,+mar[18]/ 46,XX[4] |
del(21)(q21.1) aCGH: break in 18.34 Mb (hg18 or 19?) |
SKY, aCGH | AMA; normal
sonography, normal in autopsy TOP |
{43} |
| 21- U- 21 |
female/ prenatal |
AF |
de novo | 47,XX,+mar[100%] | min(21)(pter→q11.2:) | ceps, BACs and MLPA | AMA; normal sonography, TOP | {32} |
| 21- U- 22 |
n.a./ prenatal |
AF |
n.a. | 47,XN,+mar[4]/ 46,XN[66] |
inv dup(21)(pter→q21.1: :q21.1→pter) arr[GRCh37] 21q11.2q21.1(15901076_ 20655419)x3 (30%) |
aCGH,
subcenM |
AMA | {0} provided from Portugal |
| 21- U- 23 |
n.a./ prenatal |
placenta |
mat | 47,XN,+mar | mar(21)(pter→q21.1:) | NIPT |
n.a.; mother
normal (mosaic?) |
{56} case 3 |
| 21- U- 24 |
male/ prenatal |
AF |
de novo |
47,XY,+mar[32]/ 46,XY[68] |
inv dup(21)(q11.2) | NIPT |
AMA,
songraphy normal |
{0} provided from Serbia |
| 21- U- 25 |
male/ prenatal |
AF |
n.a. |
47,XY,+21[4]/ 47,XY,+mar[4]/ 46,XY[42] |
min(21)(p11.1→q11.2:) | subcenM |
songraphy
abnormal |
{0}
provided from Germany |
| 21- U- 26 |
female/ 3y |
PBL |
n.a. |
47,XX,+mar[23]/ 47,XX,+21[8] |
inv dup(21)(q11.1) | subcenM |
Down
syndrome |
{0}
provided from Germany |
| 21- U- 27 |
female/ prenatal |
AF |
de novo | 47,XX,+mar[100%] |
mar(21)(q11.1) | aCGH |
normal at
birth |
{61}
case 9 |
| 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- Uc- 1 |
n.a./ n.a. |
PBL | n.a. | 46,tROB(21;22),mar[100%] | der(21)t(21;22)(q11.1;p11.2)* | centromeric probes for 13/21 and 14/22 | normal | {1} case 2 |
| 21- Uc- 2 |
male/ 2.5y |
PBL | familial maternal t(17;21)(p?;q?) |
47,XY,+mar[100%] | most likely t(17;21)(p?;q?) |
n.a. | severe growth and MR | {4} |
| 21- Uc- 3 |
male/ 12y |
PBL | maternal t(7;21) | 47,XY,+mar[100%] | der(21)t(7; 21)(p21;q21.3) | FISH different probes acc to {17} | see below | {17; 39} |
| Born at term after normal pregnancy. Birth weight 4010 g, length 50 cm head circumference 35 cm. Pneumonia and septicemia complicated the neonatal period. At 4 months infantile spasm. Encephalographic investigations showed hypsarrhythmia. Two hypopigmented spots on the skin, positive to Wood's light, aroused suspicion of tuberous sclerosis. Computerized tomography of the brain showed mild to moderate central and cortical atrophy. On this basis, tuberous sclerosis was excluded as a possible diagnosis. Repeated upper respiratory tract infections and otitis, suffered from constipation, and severe feeding problems. Psychomotor development severely retarded. He sat without support first at 14 months and was not able to walk until age 6 years and 6 months. At 12y unable to speak or to use sign language. He is autistic, which was obvious already before the age of 1 year. At 8 years - height 111 cm (<-3 S.D.), weight 20 kg (-2 S.D.) and head circumference 51.5 cm. (+0 S.D.). He did not resemble the other members of his family. He had a prominent forehead, down slanted palpebral fissures and hypertelorism. Strabismus was noted and he had mild hyperopia. He had a high and broad nasal bridge, a broad nose, a prominent philtrum, a large mouth, prominent lips and down-turned corners of the mouth. The palate was short and narrow. He had micrognathia, prognathism, low-set, dysplastic and posteriorly rotated ears and narrow ear canals. He had mild muscular hypotonia, hyperextensibility of joints, pes calcaneo-valgus, brachydacyly and single transverse palmar crease unilaterally. | ||||||||
| 21- Uc- 4 |
female/ 2 y |
PBL | maternal t(4;21) |
47,XX,+mar[100%] | der(21)t(4;21)(q32.1;q21.2) | aCGH | MR, DD, facial abnormal | {39; 47} |
| 21- Uc- 5 |
n.a./ prenatal |
AF | maternal t(4;21) |
47,XN,+mar[100%] | der(21)t(4;21)(q35.2;q11.2) | aCGH | n.a. | {41} |
| 21- Uc- 6 |
female/ 8 y |
PBL | maternal t(4;21) |
47,XX,+mar[100%] | der(21)t(4;21) (q25; q22.13~22.2) |
FISH | MR, DD, facial abnormal | {48} |
| 21- Uc- 7 |
female/ 3y |
PBL | maternal t(4;21) |
47,XX,+mar[100%] | der(21)t(4;21)(q24;q21) | FISH | MR, DD, facial abnormal | {49} |
| 21- Uc- 8 |
n.a./ n.a. |
n.a. | maternal t(4;21) |
47,XN,+mar[100%] | der(21)t(4;21)(q32;q22.2) | n.a. | n.a. | {50} |
| 21- Uc- 9 |
female/ 7 y |
PBL | maternal t(4;21) |
47,XX,+mar[100%] | der(21)t(4;21)(q27;q21) | n,a. | MR, DD, facial abnormal | {51} |
| 21- Uc- 10 |
female/ 2 y |
PBL | maternal t(4;21) |
47,XX,+mar[100%] | der(21)t(4;21)(q21;q21) | n.a. | MR, DD, facial abnormal | {52} |
| 21- Uc- 11 |
male/ 4 y |
PBL | n.a. | 47,XY,+mar[100%] | der(21)t(20;21)(q13.2;q22.12) | aCGH | MR, DD, facial abnormal; autism | {0} |
| 21- Uc- 12 |
female/ postnatal |
PBL | familial t(9;21) |
47,XX,+mar[100%] | der(21)t(9;21)(p24;q21.4) | n.a. |
MR, DD | {53} |
| 21- Uc- 13 |
male/ 20 y |
PBL | maternal t(10;21) |
47,XY,+mar[100%] | der(21)t(10;21)(q26;q22) | n.a. | MR, DD, DYS | {54} |
| 21- Uc- 14 |
female/ 11 y |
PBL | paternal t(4;21) with inv(4)(p14q21.3) |
47,XX,+mar[100%] | der(21)t(4;21)(q32.3;q21.3) | aCGH | MR, DD, DYS | {57} |
| 21- Uc- 15 |
2 sibs/ postnatal |
PBL | parental t(4;21) |
47,XN,+mar[100%] | der(21)t(4;21)(q31.3;q11.2) | n.a. | mild MR, DD | {59} |
| 21- Uc- 16 |
n.a./ postnatal |
PBL | maternal t(16;21) |
47,XN,+mar[100%] | der(21)t(16;21)(q11;p11) | n.a. | MR, DD | {60} |
| 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- Ud- 1 |
female/ newborn |
PBL | de novo | 47,XX,+mar[100%] | r(21)(::p11.1→q11.2: :q21.3→q22.11::) array-data: (~12)-15.70MB and 29.28 - 31.12 MB |
cep 13/21 BACs | see below | {33} |
| Birth weight 2,370g, Apgar score 7 at 1 min; mild facial dysmorphisms and hypotonia. At 2 months seizures; weight 5,250 g (90th to 97th centile), length 55 cm (25th to 50th centile), general muscular hypotonia, malformed ears, umbilical hernia, gastroesophageal reflux, but neuropsychiatric evaluation, EEG, and MRI of the brain normal; at 5 months weight 11,700 g (>97th centile); later slight delay in psychomotor development, especially speech delay; sitting without support at 7 months, walk without support at 20 months. | ||||||||
| 21- Ud- 2 |
male/ 2y |
PBL | de novo | 47,XY,+mar[100%] | der(21)(pter→q12: :q21.2→q21.3:) aCGH: 21p11q21.1 (10,827,533-20,813,004)x3, 21q21.2q21.3 (25,913,510-30,831,133)x3 |
cep; subcenM; aCGH |
DD - suggested for PWS | {0} provided from Australia |
| 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- Uu- 1 |
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