ChromosOmics - Database
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                        TL/hetmorh-book.jpg

                                                     - CHROMOSOME  6  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
06-
cen+/

1-1 to few
6cen+
D6Z1

none
{1, pages 63-64}
06-
cen+/
3-1 to few

6cen+++ in 6p11.1
D6Z1

none
{1, pages 63-64}
06-
cen+/
3-1 to 3-2

6cen+++ in 6q11.1
D6Z1

none
{1, pages 63-64}
06-
cen+/
4-1 to few

dup(6)(p11.1q11.1)
none
{1, page 64; 43}
06-
cen-/
1-1 to few

6cen-
D6Z1

none
{1, pages 63-64}
06-
inv/
1-1

inv(6)(p11.2q12)
none
{1, page 64}


Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
06-
HHM-
acro/

1-1
ins(6;acro)(q15;acro)
none
{1; 33}
06-
HHM-
acro/

2-1
der(6)t(6;acro)(q27;p11.2)
none
{0-50537}
06-
HHM-
acro14p/
1-1

ins(6;14)(p22;p12p12)
none
{38}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
06-
EHM-del
6pterp25/

1-1
del(6)(p25)
none
{1}
06-
EHM-del
q22.31q23.1/
1-1

del(6)(q22.31q23.1)
none
{1}
06-
EHM-del
q27qter/
1-1

del(6)(q27)
none in mother of affected child
{68}


Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
06-
EHM-dup
pterq25.3/
1-1 to 1-3

der(22)(22pter→22q13.33:
:20q13.33→20q13.33:
:6p25.3→6pter)

none
{72; 73}
06-
EHM-dup
p16.2q23/
1-1

dup(6)(p16.2p23)
mild to moderate
{1}
06-
EHM-dup
p12q12.1/
1-1 to few

sSMC(6)
none
{sSMC
page}

06-
EHM-dup
q16.1q21/
1-1

dup(6)(q16.1q21)
none
{1}
06-
EHM-dup
q21q22.1/
1-1

dup(6)(q21q22.1)
none
{1}
06-
EHM-dup
q23.3q24.2/
1-1

dup(6)(q23.3q24.2)
none
{1}
06-
EHM-dup
q24.2q24.2/
1-1

dup(6)(q24.2q24.2)
none
{1}