ChromosOmics - Database
tl_files/tiny_templates/Bilder
                        TL/hetmorh-book.jpg

                                                     - CHROMOSOME  4  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
04-
p11.1+/
1-1 to many

der(4)(p11.1amp)
best/only visible in Q-banding or inverted DAPI-banding

none

- both variants together present in ~8% of population
{1, pages 61-62; 42}
04-
p11.1q11.1+/
1-1 to many

der(4)(p11.1q11.1amp)
best/ only visible in Q-banding or inverted DAPI-banding

{1, pages 61-62; 42}
04-
cen+/

1-1 to many
4cen+
D4Z1
some of them may give impression of
small pericentric inv in GTG-banding

none
{1, pages 61-62}
04-
cen-/
1-1 to many

4cen-
D4Z1

none
{1, pages 61-62}


Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
04-
HHM-
owncep/
1-1 to few

D4Z1
can give signals on centromere 9

none
{1, pages 61-62}
04-
HHM-
acro/

1-1 to few
der(4)t(4;acro)(q35.2;p11.2p11.2)
none
{1; 19-23; 34; 98 (case 4qs 2)}
04-
HHM-
acro/

1-1 to 1-2
der(4)t(4;acro)(p16.3;p11.2)
none
{99; 100}
04-
HHM-
acro/
2-1

ins(4;acro)(q34.2;p12p12)
none
{1; 14}


Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
04-
EHM-del
pterp16.3/
1-1 to 1-4

del(4)(p16.3)
none (in mother of affected child)
{1}
04-
EHM-del
p16.3p15.33/

1-1 to 1-4
del(4)(p16.3p15.33)
mild to moderate
{1}
04-
EHM-del
p16.1p15.2/
1-1

del(4)(p16.1p15.2)
mild to moderate
{1}
04-
EHM-del
p15.31p12/
1-1

del(4)(p12~13p15.2~15.31)
none
{0} 56289
04-
EHM-del
q32q33/
1-1

del(4)(q32q33)
mild to moderate
{1}
04-
EHM-del
q33qter/
1-1

del(4)(q33)
mild to moderate
{1}
04-
EHM-del
q33q35.1/
1-1

del(4)(q33q35.1)
mild to moderate
{1}
04-
EHM-del
q34qter/
1-1

del(4)(q33)
mild to moderate
{1}
04-
EHM-del
q34.1q34.3/
1-1 to 1-2

del(4)(q34.1q34.3)
none /
mild to moderate

{1}
04-
EHM-del
q34.1~34.2/
1-1 to 1-2

del(4)(q34.1~q34.2)
none
{1, Color Plate 4, XIb}
04-
EHM-del
q35.1qter/
1-1

del(4)(q35.1)
mild to moderate
{1}
04-
EHM-del
q35.1q35.2/
1-1 to few

del(4)(q35.1q35.2)
none
{66; 67; 77}


Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
04-
EHM-dup
p16.3q16.3/
1-1

der(22)t(4;22)(p16.3;p1?2)
none
{77}
04-
EHM-dup
p16.2q16.1/
1-1

dup(4)(p16.2p16.1)
mild to moderate
{1, page 89}
04-
EHM-dup
p16.1q16.1/
1-1 to few

dup(4)(p16.1p16.1)
RP11-637J21, RP11-751L19, RP11-264E23, RP11-180A12

none
or mild to moderate

{1, page 89}
04-
EHM-dup
p13q13.1/

1-1 to few
sSMC(4)
none
{sSMC
page}

04-
EHM-dup q35qter/
1-1 to 1-6

variant sizes of duplications in this region
none (2 families)
or mild to moderate (4 families)

{1, pages 89-91}