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

                                                     - CHROMOSOME  22  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants
for further NOR-region variants principally possible but not specified for13-15 or 21-22 yet see acro-chrs.

case no.
(molecular) cytogenetic result
clinical symptoms
reference
22-
p13-p11.2/
1-1

der(22)(pter→p11.2::p13→p11.2::p13→qter)
none
{1; Color Plate 2, I}
22-
p13-p12/
1-1 to several

dup(22)(p13p12)
none
{1, page 42}
22-
p13+/
1-1 to several

der(22)(p13amp)
none
{1}
22-
p13-/
1-1 to few

del(22)(p13) or del(22)(p13p13)
none
{1, pages 51-52}
22-
p12+/
1-1 to several

der(22)(p12amp)
NOR

none
{1}
22-
p12-/
1-1 to few

del(22)(p12) or del(22)(p12p12)
none
{1, pages 51-52}
22-
p11.2+/
1-1 to several

der(22)(p11.2amp)
D22Z4 or D22Z3

none
{1}
22-
p11.2-/
1-1 to few

del(22)(p11.2) or del(22)(p11.2p11.2)
D22Z4 or D22Z3

none
{1, pages 51-52}
22-
cen+/

1-1 to many
22cen+
D22Z1

none
{1, pages 78-79}
22-
cen-/
1-1 to many

22cen-
D22Z1

none
{1, pages 78-79}
22-
inv/
1-1

der(22)(pter→p13::p11.2→p11.2:
:p11.2→p12::p11.2→qter)

none
{1; Color Plate 1, VII}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
22-
HHM-
own cep/
1-1 to many

D22Z1 = D14Z1 gives always signals 14p11.1q11.1
{1}
{1}
22-
HHM-
own p-arm/
1-1

22p11.2amp,22p11.2del
none
{0}
22-
HHM-
13p11.1q11-
21p11.1q11.1/
1-1 to 1-7

der(21)t(13/21;22)(p11.1;p11.1)
D13/21Z1 signal on one #22

none
{1, page 81; 8; 49-54}
22-
HHM-
15p11.2/
1-1 to multiple

der(22)t(15;22)(p11.1;p11.1)
D15Z1 signal on one #22

none
{4; 1, page 46}
22-
HHM-
15p11.2/
1-1

der(22)(15pter→15p11.2::15p13→15p11.2::22p1?2→22qter)
D15Z1 signal 2 times on one #22

none
{1; Color Plate 2, II}
22-
HHM-
acro/

1-1
der(22)t(22;acro)(q22.3;p11.2)
none
{0;1}
22-
HHM-
acro/
2-1

ins(22;acro)(q?;acro)
none
{1;37}
22-
HHM-
18p11.1q11.1/
1-1

ins(22;18)(q10;p11.1q11.1)
none
{1, page 81; 58}
22-
HHM-
Yq12/
1-1 to 1-7

der(22)t(Y;22)(q12;p11.2) in 6/23 = 33% of cases with t(Y;acro)
none
{3; 1, page 47; 69}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
22-
EHM-del
pterq11.21/

1-1
del(22)(pterq11.21)
none
{1}
22-
EHM-del
pterq11.21/
1-2

del(22)(pterq11.21) due to a der(9)t(9;22)(9pter→9qter::22q11.21→22qter)
aCGH(hg19): only del in #22: break in 16.94~17.59 Mb

none
{80} case 4
22-
EHM-del
pterq11.2/
1-1

del(22)(pterq11.2)
mild to moderate
{1}
22-
EHM-del
q11.2q11.2/
1-1

del(22)(q11.2q11.2)
mild to moderate
{1}
22-
EHM-del
q13.3q13.3/
1-1

del(22)(q13.3q13.3)
mild to moderate
{1}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
22-
EHM-dup
pterq11.21/
1-1 to few

sSMC(22)
none
{sSMC
page}

22-
EHM-dup
pterq11.21/
2-1 to few

der(22)(pter→q11.21::p11.2→qter)
none
{0; 1}