ChromosOmics - Database
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                                                     - Y-CHROMOSOME  -                                                   


Heterochromatic

- centromeric
- other heterochromatic variants
Euchromatic

- euchromatic deletions
- euchromatic duplications
References


Heterochromatic - (peri)centromeric variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
0Y-
cen+/

1-1 to few
Ycen+
DYZ3

none
{1, page 80}
0Y-
cen-/
1-1 to few

Ycen-
DYZ3

none
{1, page 80}
0Y-
inv/
1-1 to many

inv(Y)(p11.2q11.2)
none
{1, page 80}
0Y-
q12/
1-1 to many

Yqh+
DYZ1

none
{1, page 10}
0Y-
q12/
2-1 to many

Yqh-
DYZ1
0.09% - 0.78% in general male population

none
{1, page 10; 68}

Heterochromatic - other heterochromatic variants

case no.
(molecular) cytogenetic result
clinical symptoms
reference
0Y-
HHM-
own q12
1-1 to few
to many

DYZ1 was inserted in / added to
1; 7; 11; 13; 14; 15; 17; 21; 22
none
{1}
0Y-
HHM-
acro/

1-1 to many
der(Y)t(Y;acro)(q12;p11.2)
none
{1, page 48}
0Y-
HHM-
acro/
2-1

der(Y)t(Y;acro)(p11.32;p11.2)
none
{1; 12}
0Y-
HHM-
acro/
3-1

ins(Y;acro)(q?;acro)
none
{1; 37}
0Y-
HHM-
15/
1-1 to many

der(Y)t(Y;15)(q12;p11.2)

in ~50-80% of cases with t(Y;acro)
acc. to {103} maybe 2 different variants included here
maybe a 3rd. variant unpubl -
65044
none
{103}

Euchromatic deletions

case no.
(molecular) cytogenetic result
clinical symptoms
reference
0Y-
EHM-del
p11.32/

1-1 to few
del(Y)(p11.32)
CY29 (cosmid)

none
{5}
0Y-
EHM-del
p11.32/
1-1

del(Y)(p11.32)
reduction of signal size

none
{77}
0Y-
EHM-del
q12qter/
1-1 to 1-3

del(Y)(q12)
only subtelomere

none
{77}

Euchromatic duplications

case no.
(molecular) cytogenetic result
clinical symptoms
reference
0Y-
EHM-dup
p11.32/
1-1

dup(Y)(p11.32)
CY29 (cosmid)

none
{5}
0Y-
EHM-dup
p11.32/
1-1 to 1-4

Xp22.33 or Yq11.32 on Xq28
none
{77}
0Y-
EHM-dup
q12/
1-1

Xq28 or Yq12 on 20p13
none
{77}