ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #3 -                                                 
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(3)mat UPD(3)pat UPD(3)mat or pat

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
***
03-
O-
p12.3/
1-1

female/
37y
PBL de novo 47,XX,+mar[100%] min(3)(:p12.3q13.11:)
aCGH: 74.67-104.78
FISH-data: RP11-312H1 (87.6 MB) on sSMC
aCGH (Agilent 44000); FISH normal female with one 15 years old daughter. One miscarriage at 5 months of gestation {0} provided by Dr. F. Sheth, Ahmedabad, India
03-
O-
p12.3/
2-1

female/
31y
PBL n.a. 47,XX,+mar[100%] min(3)(:p12.3q11.1:)
aCGH: 78.937-90,305
aCGH ; subcenM-FISH normal female, infertile
{0} provided from Greece
03-
O-

p12.2/
1-1
male/
45y
PBL n.a. 47,XY,+mar[15] min(3)(:p12.2q11.1:)
FISH-data: RP11-91A15 (89.6 MB) on sSMC
cenM
subcenM
ICSI-patient; no clinical signs
{1} case 8
{2} case 2
{37} case 6
{56} case 3-1
03-
O-

p12.1/
1-1
male/
51y
PBL n.a. 47,XY,+mar[6]/
46,XY[14]
min(3)(:p12.1
q11.1~11.2:)[55]/
min(3)(:p11.1

q11.1~11.2:
:q11.1~11.2

p11.1:)[2]
FISH-data: RP11-91A15 (89.6 MB) RP11-21I16 (96.01 MB - hg2006; 94.53 MB - hg2009) on sSMC

midi
normal male with fertility problems and depression; cryptorchidism, small testes, umb. and ing. hernia. {37} case 7
{56} case 3-2
03-
O-

p12.1/
2-1
female/
prenatal
AF n.a. 47,XX,+mar[16]/
46,XX[33]
dic(3)(:p12.1q11.2:
:q11.2
p12.1:)[12]/
min(3)(:p12.1
q11.2:)[3]/
r(3)(::p12.1
q11.2::)[1]
FISH-data: RP11-91A15 (89.6 MB) and RP11-21I16 (96.01 MB - hg2006; 94.53 MB - hg2009) on sSMC
cenM
subcenM
aCGH
see below {56} case 3-3
Amniocentesis CVS in week 14+4 due to advanced risk in 1. trimenon screening (1:280), normal child born with APGAR 9/9/10; weight 3650g, length 50cm; at 8 years developmental retardation, microcephaly, seizures, no language

03-
O-

p12.1/
2-2
female/
29y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[17%]/
46,XX[83%]
r(3)(::p12.1q11.1::)[14]/ min(3)(:p12.1q11.1:)[5]/ min(3)(:p12.1q11.1:
:q11.1
p12.1:)[2]
FISH-data: RP11-91A15 (89.6 MB) on sSMC;
aCGH: 89,269,203-90,149,349
midi
subcenM
aCGH
normal female {0} provided by Dr. G. Krüger, Rostock. Germany
03-
O-

p12.1/
3-1
female/
prenatal
AF/
PBL
de novo 47,XX,+mar[19]/
46,XX[6]
in PBL 18:17
min(3)(:p12.1
q12.3:)
array-data: (hg19) 85,362,707-
102,795,128
aCGH normal at age of 4 years {{54} case 4
{56} case 3-4

{
59} case
03-
O-
p12.1/
4-1
female/
37y
PBL n.a. 47,XX,+mar[17]/
46,XX[33]
mar(3)(:p12.1q11.1:)
aCGH hg19: 83,610,388-90,192,224
aCGH hg18;
83,810,388-89,400,000
aCGH infertility (in vitro failures) {0} provided by Dr. A. Jezela-Stanek, Instytut-Pomnik "Centrum Zdrowia Dziecka, Warsaw, Poland
03-
O-
p12.1/
4-2
male/
50y
PBL n.a. 47,XY,+mar[8]/
46,XY[2]
r(3)(::p12.1q11.1::)[6]/
min(3)(:p12.1→q11.1:)[2]
cenM
subcenM
normal male, repeated abortions in partnership {0} provided by Dr. B. Belitz, Berlin, Germany
03-
O-
p12/
1-1
male/
prenatal
AF de novo 47,XY,+mar[100%] min(3)(:p12q10:) midi Amniocentesis due to advanced maternal age. A healthy boy was delivered at term. At 20m of age the development of the child was still normal {8} case 1
03-
O-

p11.2/
1-1
after aCGH moved to 03-O-p12.3/1-1
***
03-
O-

p11.2/
2-1
female/
35y
PBL n.a. 47,XX,+mar[5]/
46,XX[10]
r(3)(:p11.2q12.1:)
aCGH: 3p12.3q13.11 77,503,851-105,005,564 Mb
FISH-confirmed
cep probes, subcenM; MCB; aCGH Physically normal female; in childhood repeated infections, DD and language development problems {51} case 1
{52} case Sr-3
03-
O-

p11.2/
3-1
female/
adult
PBL n.a. 47,XX,+mar[49]/
46,XX[11]
min(3)(:p11.2q13.1:)
aCGH: 93,500,001-103,839,892 Mb
cep probes,  NGS infertile {60} case2
03-
O-

p11.1/
1-1
male/
newborn
PBL de novo 47,XY,+mar[100%] min(3)(:p11.1q11.1:) cenM, subcenM studied postnatal cytogenetically due to free trisomy 3 in chorion {0} provided by Dr. O.A. Haas, Vienna, Austria
03-
O-

p11.1/
1-2
male/
prenatal
AF de novo 47,XY,+mar[25]/
46,XY[19]
min(3)(:p11.1q11.1:) cenM, subcenM amniocentesis due to M. Hodgkin and chemotherapy 10 years ago; normal child born and normal at 2 years of age {0} provided by Dr. Mehnert, Neu-Ulm, Germany
03-
O-
p11.1/
1-3
male/
prenatal
CH n.a. 47,XY,+mar[22]/
46,XY[189]
min(3)(:p11.1q11.1:) cenM, subcenM in sonography one lacking kidney; apart from that normal child born {0} provided by Dr. Junge, Dresden, Germany
03-
O-
p11.1/
1-4
male/
adult
PBL n.a. 47,XY,+mar[84%]/
46,XY[16%]
min(3)(:p11.1q11.1:) cenM, subcenM normal male, infertile {0} provided by Dr.Emmanulakis, Athens, Greece
03-
O-
p11.1/
1-5
male/
prenatal
AF n.a. 47,XY,+mar[~10%]/
46,XY[~90%]
min(3)(:p11.1q11.1:) cenM, subcenM normal male, infertile {0} provided from Spain
03-
O-

p11.1/
2-1
female/
adult
PBL de novo 47,XX,+mar[100%] min(3)(:p11.1q11.2:) pAEO.68; RP11-631O4 Studied due to one second trimester miscarriage {46} case P-1, {55}
03-
O-

p11.1/
2-2
male/
33y
PBL n.a. 47,XY,+mar[15%]/
46,XY[85%]
min(3)(:p11.1q12:) cenM, subcenM normal male, infertile {0} provided by Dr. Iuorov, Moscow, Russia
03-
O-

p11.1/
2-3
female/
prenatal
AF/ chord blood
de novo
47,XX,+mar[4]/
46,XX[46]
in blood sSMC 24%
min(3)(:p11.1q12:)
aCGH (hg19: 93,649,973-97,137,764)
aCGH
normal female born
{61}
03-
O-
p11.1/
4-1
female/
33y
PBL n.a. 47,XX,+mar[9]/
46,XX[1]
min(3)(:p11.1q12.1:)[6]/
min(3)(:p11.1
q11.2:)[3]
cenM, subcenM normal female, infertile {0} provided from Stuttgart, Germany
***
03-
O-

p10/
1-1
male/
prenatal
AF mat
[33%]
47,XY,+mar[41%]/
46,XY[59%]
r(3)(::p10q13.1::)
FISH-data:
RP11-21I16 (96.01 MB - hg2006; 94.53 MB - hg2009) on sSMC
midi AMA. Mother normal; at nine months of age the development of the child was still normal. {5} cases E; F
***
03-
O-

p10/
2-1
n.a./
prenatal
CH mat
[5-6%]
47,+mar[56%]/
46[44%]
r(3)(::p10q12::)
FISH-data:
RP11-21I16 (96.01 MB - hg2006; 94.53 MB - hg2009) on sSMC
midi;
UPD-test
Normal at autopsy; mother normal {5} cases B; C

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
03-
O-
IMB-
p12.3/
1-1
female/
adult
PBL n.a. 46,XX,dup(3)(p12.3) aCGH
Normal; detected due to sSMC 11 in fetus
{63}
03-
O-
IMB-
q11.2/
1-1
female/
33y
PBL n.a. 46,XX,dup(3)(q11.1q11.2) FISH, BACs
Normal
{0- 51939} provided from Tübingen, 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
03-
CO-
1
male/
prenatal
AF de novo 47,XX,+mar[80%]/
46,XX[20%]
min(3) FISH probe (D3Z1) Amniocentesis due to advanced maternal age and 3 previous abortions; pregnancy terminated; pathology of the fetus was normal at 18 weeks of gestation. {3} case 6
03-
CO-
2
female/
7m
PBL de novo 47,XX,+mar[56%]/
46,XX[44%]
min(3) .ish D3Z1+, wcp3+ different FISH probes normal apart from a dysplastic kidney {3} case 5
03-
CO-
3
female/
30y
PBL de novo? 47,XX,+mar[20]/
46,XX[80]
r(3) SKY; wcp3 RAB {19} case 5
{37} case 8
{56} case 3-5
03-
CO-
4
n.a./
prenatal
AF de novo 47,+mar[?%] r(3)
n.a.
normal sonography {44} 1 case