ChromosOmics - Database
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                                                     - CHROMOSOME  17  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
17-
cen+/

1-1 to few
17cen+
D17Z1 in 17p11.1

none
{1, pages 74-75}
17-
cen-/
1-1 to few

17cen-
D17Z1 in 17p11.1
absence of D17Z1 in 0.11% of general population

none
{1, pages 74-75}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
17-
HHM-
acro/

1-1 to many
der(17)t(17;acro)(p13.33;p11.2)
see below - here subtel 17p region may be lost

none
may be mixed up with fragile site in 17p!

{1; 28-30; 76}
17-
HHM-
acro/

2-1
der(17)t(17;acro)(q25.3;p11.2)
none
98 (case 17ps/qs 2)
17-
HHM-
Xp11.1q11.1/
1-1

ins(1;X)(q10;p11.1q11.1),
ins(12;X)(q10;p11.1q11.1),
ins(17;X)(q10;p11.1q11.1)

none
{1, page 81; 60}
17-
HHM-
Yq12/
1-1

ins(17;Y)(q21.1;q12q12)
none
{0}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
17-
EHM-del
pterp13.3/

1-1 to few
del(17)(p13.3)
mild to moderate or none {68}
{1; 76; 77}
17-
EHM-del
q25.3qter/
1-1

del(17)(q25.3)
none in father of affected child
{68}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
17-
EHM-dup
pterp13.3/
1-1

der(18)t(17;18)(p13.3;p13.3)
none
{77}
17-
EHM-dup
p11.2q11.2/
1-1 to few

sSMC(17)
none
{sSMC
page}