ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #7 -                                                 
NEOCENTRIC
 
Cases without clinical findings
Similar imbalances – no sSMC
Cases with clinical findings
Similar imbalances – no sSMC
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases with neocentromeres
Similar imbalances
Tumor
DISCLAIMER
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(7)mat UPD(7)pat UPD(7)mat or pat

Cases with neocentromeres (N)


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
07-
N-

mar/1
n.a./
child
PBL n.a. 47,+mar[45%]/
46[55%]
mar(7) kind of M-FISH learning/DD/ dysmorphic features {12}
07-
N-
q22.1/
1-1
prenatal/
male
AF; PBL de novo 47,XY +r(7) [8]/ 46,XY [92]
sSMC in amnion: 59%; in blood (3 months): 28% in blood, 10 years): 7-8%
r(7)(q22.1q31.1)(RP11-473H4+,
RP11-656D16+)
aCGH
FISH M-FISH
Intrauterine growth restriction (IUGR), MR, DD, facial abnormalities, external genital defects; axial hypotonia, segmental hypertonia
{0} provided by Dr C. Schluth-Bolard and C. Louvrier; Bron, France
07-
N-
q22/
1-1
see McCl-07-N-q22/1-1
07-
N-
qt35/
1-1
9y/
female
PBL, fibroblasts n.a. 47,XX,+mar[20%]/
46,XX[80%]
in skin 73% sSMC
inv dup(7)(qterq35:
:35
qter)
aCGH: 143.7Mb to qter
aCGH; FISH DYS, DD {45; 47}
07-
N-

qt36.1/
1-1
n.a./
n.a.
n.a. n.a. n.a. inv dup(7)(qterq36.1:
:36.1
qter)
n.a. n.a. {17}

Cases with neocentromeres (N) - TUMOR


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
07-
N-
p or q
1-1
-
-
-
-
-
-
-
-

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

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding and final FISH result test
methods

clinical symptoms
Reference

07-N-
IMB-
pter-
different
length
partial trisomy of 7pter
{28}

07-N-
IMB-
qter-
different
length
partial trisomy of 7qter
{31}
-
-
-
-
-
-
-
-