ChromosOmics - Database
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                                                  CHROMOSOME #12 -                                                 
UNCLEAR
Specific PATIENTINFORMATION for sSMC(12)

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
12-
U-
1
female/
prenatal
AF de novo 47,XX,+mar[30%]/
46,XX[70%]
r(12) FISH with all available centromeric probes n.a., as pregnancy terminated and no autopsy performed {6} case 4
12-
U-
2
male/
prenatal
AF de novo 47,XY,+del(12)(q11)[40%]/
46,XY[60%]
n.a. n.a. n.a. {14} case VIIc-1
12-
U-
3
see mult 2-13
12-
U-
4
see McCl-12-Up13.1/1-1
12-
U-
5
male/
prenatal
CH; AF de novo 47,XY,+mar[34]/
46,XY[16]
no mar in AF detected (number of analyzed cells?)
ish mar(12)(wcp12+) all centromeric probes; wcp12 CVS due to AMA; child born at term; weight: 2.877 kg. No anomalies were noted. The patient was lost to follow-up. {117} case 10
12-
U-
6
see 12-Uc-1
12-
U-
7
see 12-Uc-2
12-
U-
8
female/
prenatal
AF de novo 47,XX,+mar[12]/
46,XX[3]
r(12) (:p11q12:)
RP11-242B24 and RP11-791O13 (38.11 MB) present on sSMC
aCGH, cep 12 AF due to AMA; no info available {143} case 1
{186} case 1
12-
U-
9
n.a./
prenatal
AF de novo 47,+mar[?%] min(12) n.a. n.a. {190} 1 case
12-
U-
10
female/
prenatal
AF n.a. 47,XX,+mar[?%]/
46,XX[?%]
min(12) SKY AF due to AMA; no info available {221} case F0646031
12-
U-
11
see +0Xf-12-1 {0} provided by Dr. Guitart; Spain
12-
U-
12
male/
prenatal
AF n.a.
47,XY,+mar[8]/
46,XY[16]
min(12)(:p11.1q11:) cenM; subcenM AF due to AMA; no info available {0} provided by Dr. Alves; Portugal
12-
U-
13
female/
prenatal
AF n.a. 47,XX,+mar[19]/
46,XX[2]
mar(12) (:p11.22q12:)
aCGH: 29.20-38.71 MB
aCGH n.a.; TOP {235} case 14
12-
U-
14
see 12-Uc-3
12-
U-
15
male/
postnatal
PBL n.a. 47,XY,+mar[50%]/
46,XY[50%]
min(12)(:q12→p11.1:
:p11.1
q12:)
midi n.a. {0} provided by Dr. Weimer, Kiel, Germany
12-
U-
16
male/
prenatal
AF
de novo 47,XY,+mar[85]/
46,XY[6]
min(12)(:p11.21q11:)
aCGH: bp in 12p at 32.67Mb (hg19?)
aCGH TOP
{307} case 24/21
12-
U-
17
female/
prenatal
AF
n.a. 46,X,psu dic(Y)t(Y;12)(p11.32;q13.11)[24]/
46,X,+mar[19]
min(12)(:p11.22q11~12:)
subcenM AMA
{0} provided from Essen, 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
12-
Uc-
1
n.a./
postnatal
PBL maternal
t(4;12)(p16;q11)
47,+mar[100%] der(12)t(4;12)(p16;q11) wcp 12, WHS-probe craniofacial abnormalities (convex forehead, micrognathia, abnormal left ear), severe hypotonia, growth delay {131} case 1; {240}
12-
Uc-
2
male/
13 months
PBL de novo
47,XY,+mar[~30%]/
46,XY
dic(8;12)(8pterq11.1: :12q11.112pter) n.a. see below {135}
psychomotoric delay, dysmorphic features like macrocephaly, agenesis of corpus callosum, high and prominent forehead, hypertelorism, dysplastic ears, cleft palate, uvula bifida, zygodactyly of 2. and 3. toes and hearing impairment

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
12-
Ud-
1
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(12)(pterp13.32:
:p11.22
q11:
:q11
p11.22::p13.32pter)*
aCGH see below {142}
Child seen 3w after birth. With partial small bowel malrotation, hydrocephalus, macrocephaly infantile spasms, cortical visuals impairment, nasal dermoid on forehead, bifid uvula. At 3 y noted to have hypertelorism, downslanting palpebral fissure, short webbed neck, polythelia, 5th digit clinodactyly, hypotonia, inability to sit up without support. OFC in 25th centile. Profound DD.
12-
Ud-
2
male/
postnatal?
PBL? n.a. 47,XY,+mar[63%]/
46,XY[37%]
see below aCGH abnormal {194} case 31439
mar(12)(:p13.33::p13.31p13.2::p11.23::p11.22p11.21::?12cen::p11.21p11.22::p11.23::p13.2::p13.31::p13.33:)
12-
Ud-
3
male/
3y
PBL n.a. 47,XY,+mar[100%] see below aCGH abnormal; DD {0} provided from Würzburg
mar(12)(pterp13.31::p12.1p11.22::p11.21q10::p13.33pter)
arr[hg19] 12p13.33(226,523-2,048,114)x3~4,12p13.33p13.31(2,048,115-9,367,840)x3,12p12.1p11.22(23,446,173-29,692,473)x3,12p11.21p11.1(30,823,459-34,078,152)x3

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
12-
Uu-
1

female/
prenatal
AF de novo 47,XX,+mar[16]/
46,XX[14]
min(12)(:p11q11:)
maternal UPD 12
cenM;
long and short arm specific probes for 12p and 12q; UPD-test
see below {2}
{4} case 11
{237
AMA; born after 39 weeks of gestation; Birth weight 2850g, length 46cm, head circumference 34cm, all around the 50th centile. Apgar score 9 , 10, 10. No congenital anomalies or dysmorphic features were noted. At age of six weeks, clinical examination indicated normal somatic and psychomotor development.
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