ChromosOmics - Database
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                                                     - CHROMOSOME  16  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
16-
cen+/

1-1 to few
16cen+
D16Z2

none
{1, pages 73-74}
16-
cen+/
2-1

dup(16)(p11.1q11.2)
none
{1, page 74}
16-
cen-/
1-1 to few

16cen-
D16Z2

none
{1, pages 73-74}
16-
inv/
1-1 to few

inv(16)(p11.2q12.1)
none
{1, page 74; 0}
16-
q11.2/
1-1 to many

16qh+
band 16q11.2 - D16Z3
0.37% in general population

none
{1, pages 9, 73-74}
16-
q11.2/
1-1 to few

16qh-
band 16q11.2 - D16Z3
0.016% in general population

none
{1, pages 73-74}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
16-
HHM-
acro/

1-1
ins(16;acro)(p11.2;p11.2p11.2)
none
{14; 1, color plate 2, VII}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
16-
EHM-del
pterp13.3/
1-1

del(16)(p13.3)
ranging from 2.7 to 268 kb

mild
{1}
16-
EHM-del
q13q22/

1-1
del(16)(q13q22)
none
{1}
16-
EHM-del
q21q21/
1-1

del(16)(q21q21)
none
{1}
16-
EHM-del
q24.3qter/
1-1

del(16)(q24.3)
none
{1}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
16-
EHM-dup
pterp13.3/
1-1 to 1-2

der(18)t(16;18)(q24.3;p13.3)
none
{77}
16-
EHM-dup
p11.2p11.2/
1-1 to few

dup(16)(q11.2q11.2)
RP11-
96K14
none
{1}
16-
EHM-dup
p11.2q12.1/
1-1 to few

sSMC(16)
none
{sSMC
page}

16-
EHM-dup
p11.1q11.2/
1-1

dup(16)(p11.2q11.2) none
{0} -17755
16-
EHM-dup
q12.1q12.1/
1-1

dup(16)(q12.1q12.1)
none
{1}
16-
EHM-dup
q11.2q12.1/
1-1

dup(16)(q11.2q12.1)
mild to moderate
{1}
16-
EHM-dup
q11.2q13.1/
1-1

dup(16)(q11.2q13.1)
mild to moderate
{1}
16-
EHM-dup
q12q11.2/
1-1 to multiple

dup(16)(p12p11.2)
RP11-96K14 or RP11-488I20
can be extremely large {65}

none
{1; 65}