ChromosOmics - Database
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                          TL/sSMC-book.jpg tl_files/tiny_templates/Bilder
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                                                  CHROMOSOME #21 -                                                 
ABNORMAL
Cases with clinical findings (W)

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-
W-
q11.2/
1-1

°°°
n.a./
postnatal
PBL de novo 47,+mar[50%]/
46[50%]
mar(21)(p?q11.2)*
size ~0.4 MB
n.a. subcenM with 3 BACs Difficulty with fine motor skills; mild DYS; small penis {19} case 24
21-
W-
q11.2/
1-2
male/
prenatal
AF n.a. 47,XY,+mar[?44%]/
46,XY[?55%]
min(21)(pter→q11.2:)
aCGH (hg19): 13.25Mb
aCGH Choroid plexus cyst, anomalies of skull,
mild macrocephaly
{45} case P9
21-
W-

q11.2~
21.1/
1-1

°°°
male/
62y
PBL n.a. 47,XY,+mar[5]/
46,XY[15]
min(21)(pterq11.2~21.1:) cenM, subcenM, wcp13, wcp21 see below {0} provided by Dr. J. Vermeesch, Leuven, Belgium
psychomotor retardation; severe DD no sexual development; short stature, microcephaly; brachycephaly; large nose, behavioral problems; birth was "difficult" - weight 2850g;
21-
W-

q11.2~
21.1/
1-2

°°°
male/
newborn
PBL
(EKF-
cellbank)
de novo 47,XY,+mar[5]/
46,XY[10]
min(21)(pterq11.2~21.1:)
FISH-data: break between 15.00 and 24.51 MB
cenM, subcenM, LSI 21; LSI UBE3A; PCL-FISH;
UPD-test (also for #15)
see below {37} case 22
Scoliosis of the spine, flat feet with ankles turning in, 22kg at age 4 ( both parents are very slim), was born underweight, wants to eat nonstop; depressed bridge of the nose, autism, delayed fine motor skills
21-
W-

q11.2 -
q21.3 -
q22.11/
1-1
see 21-Ud-1
21-
W-

q21/
1-1

°°°
female/
7y
PBL de novo 47,XX,+mar[70%]/
46,XX[30%]
r(21)(::p11.2q21::) all available centromeric probes; wcp 21 slightly retarded development, flat root of nose, broad nose, wide mouth, dental anomalies, splayfoot, hypotonia of trunk {5} case 8
21-
W-

q21.?/
1-1

°°°
female/
3.5y
PBL de novo 47,XX,+r[56%]/
46,XX[44%]
?min(21)(:pterq21.?:)* midi; wcp probes for the acrocentric chromosomes see below {8}
During pregnancy mother had taken multiple medications including synthroid and amphetamines; induced delivery at 36weeks due to maternal hypertension; weight 2,040g, OFC 31.5cm, APGAR 5/6/-;speech and motor delay at 3.5y; at this time height and weight at the 5th centile; OFC normal; long eyelashes, heavy eyebrows, wide-set eyes, protruding upper lip, autism suggested - no Down syndrome typical signs
21-
W-

q21.?/
1-2
female/
2.5y
PBL de novo 47,XX,+mar[100%] min(21)(pterq21~22.1:) centromeric probes, subcenM Down syndrome {0} provided by Dr. Ivan Iourov, Moscow, Russian Federation
***
21-
W-

q21.1/
1-1

°°°
n.a./
postnatal
PBL n.a. 47,+mar[75%]/
46[25%]
mar(21)(p?q21.1:)*
size ~4.7 MB = position 18.1 MB
n.a. subcenM with 3 BACs, aCGH see below {19} case 25
Borderline normal intelligence with an IQ of 76; mild dysmorphic features; bipolar disorder with psychotic features; anxiety; diabetes mellitus, type 2; chronic enuresis; at 19 years of age, patient is taking general studies classes at a community college.
21-
W-
q21.1/
1-2
female/
8y
PBL n.a. 47,XX,+mar[6]/
46,XX[47]
min(21)(pter→q21.1)
size in q-arm 2.7 MB = position 15.9 MB
centromeric probes, subcenM;
aCGH
seizures, regression, MR {0} provided by Dr. Küchler, Essen, Germany
21-
W-
q21.1/
1-3
male/
?postnatal
?PBL n.a. 47,XY,+mar[100%] min(21)(pterq21.1:)
aCGH (hg19):15.55 MB
aCGH syndactyly, scoliosis {45} case P8
21-
W-
q21.1/
1-4
male/
6y
PBL n.a. 47,XY,+mar[12]/
46,XY[17]
min(21)(pterq21.?1:)
in aCGH no imbalance
subcenM
aCGH
DD {0} provided by Dr.  Junge, Dresden, Germany
21-
W-
q21.1/
2-1

°°°
see 21-Ud-2
21-
W-

q21.1~
21.2/
1-1
female/
4y
PBL de novo 47,XX,+mar[6]/
46,XX[15]
inv dup(21)(q21.1~21.2)
acc to aCGH: break in 30,868,226 MB - so in 21q22.11
acrocenM;
subcenM; LSI 21 (not present on sSMC)
aCGH
Down syndrome like phenotype {0} provided by Dr. Belitz, Berlin, Germany
21-
W-
q21.1-q22.1/
1-1
female/
3y
PBL n.a. 47,XX,+mar[100%] der(21)(pter→q21.1:
:q22.1
pter)
aCGH;
subcenM
DD; minimal DYS; seizures {0} provided by Dr. Huhle, Leipzig, Germany
21-
W-

q21.3/
1-1
male/
9y
PBL de novo 47,XX,+mar[100%] min(21)(pterq21.3:) subcenM; LSI 21 (not present on sSMC) MR, no DS {0} provided by Dr. Polityko, Minsk, Belarus
21-
W-

q21.3/
1-2
female/
prenatal
AF n.a. 47,XX,+mar[?%]/
46,XX[?%]
mar(21)(pterq21.3:)* aCGH TOP - no info available {34} case 19
21-
W-
q21.3/
2-1
female/
11y
PBL n.a. 47,XX,+mar[6]/
46,XX[9]
inv dup(21)(q21.3)
arr[hg19] bp in q 31.98 Mb
subcenM;
aCGH
abnormal {0} provided by Dr. Kunz, Berlin, Germany
21-
W-

q21~
22.1/
1-1
male/
1m
PBL maternal
in normal mother mar in 36/50 metaphases
47,XY,+mar[53]/
46,XY[12]
min(21)(pterq21~22.1:)* cep probes; wcp probes; probe in 21q22.2 newborn studied due to hypotonia but without other abnormal phenotypic features {11}
21-
W-
22.1?1/
1-1
male/
2y
PBL de novo 47,XY,+mar[100%] min(21)(pterq21.1?1:) cep probes; wcp probes; probe in 21q22.2 see below {0} provided from Hungary
abnormal ears, hypertelorism, almond-shaped palpebral fissures, carp-shaped mouth, brachydacytly, delayed motor and speech development, muscular hypotonia, cryptorchism
21-
W-

q22.13/
1-1
female/
prenatal
AF n.a. 47,XX,+mar[25%]/
46,XX[75%]
min(21)(:p12q22.13:)
array: 0.00-37.88 MB
midi, aCGH AMA; TOP due to phokomely of all 4 extremities
{0} provided by Dr. Heilbronner, Stuttgart, Germany
21-
W-

q22.3/
1-1
n.a./
prenatal
chord blood de novo 47,+mar[45]/
46[5]
inv dup(21)(p10) cep probes, wcp21 AMA and ultrasound abnormalities: diaphragmic hernia, ascites, Dandy Walker anomaly {14} case 20

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

case no.
gender/
age at diagnosis

studied
material

de novo/
Inherited

GTG-banding and final FISH result test
methods

clinical symptoms
Reference
21-
W-

IMB-
q22.1/
1-1 to
1-3
see {25-27} {25-27}
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W-cases with unclear/insufficient characterization of the sSMC (CW)

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-
CW-
1
male/
1y
PBL de novo 47,XY,+mar[50%]/
46,XY[50%]

del(21)(q?)* (D13/21Z1+,wcp21+)
different FISH probes mild Down-syndrome features {2} case 8
21-
CW-
2
female/
1m
PBL maternal (in 16/50 mitosis in mother) 47,XX,r(21),+mar[20%]/
46,XX,r21[?]/
45,XX,-21[?]
inv dup (21)(q1?)* (D13/21Z1++,wcp21+) different FISH probes see below {2} case 9

pregnancy and delivery normal; weight 3080g; length 48cm; APGAR 4/8/9; asphyxia; facial dysmorphism like low forehead, antimongoloid slant of palpebral fissures, narrow lips, low set ears, microretrognatia,; large hands and irregularly inserted toes
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