ChromosOmics - Database





                                                  - CHROMOSOME  Y -                                                

Cases without
clinical findings
Cases with
clinical findings

most common clinical findings acc to Orphanet (variable clinical features)

 - partial to total gonadal failure, sexual infantilism, genital anomalies
- growth retardation
- Turner-syndrome features
- in case of SRY-loss female phenotype

Important note: small ring chromosomes derived from Y-chromosome are summarized elsewhere - here and here.
In most publications ring size is not considered in abstract.
Thus, many non accessible paper are not included here.
Cases without or very mild clinical findings (O)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		karyotype test
methods
 		clinical symptoms
 		Reference
RC/O-
0Y-
p1?1q1?2/
1-1

male/
29y

PBL

?dn

46,X,r(Y)(p1?1q1?2)

dynamic mosaicism: 45,X/46,X,r(Y)/46,X,der(Y),r (Y;Y)

GTG

normal, infertile, OAT

 {902}
RC/O-
0Y-
p1?1q1?2/
1-2

male/
33y

PBL

?dn

46,X,r(Y)(p1?1q1?2)

dynamic mosaicism: 45,X/46,X,r(Y)

GTG

normal, infertile

{1167}
RC/O-
0Y-
p1?1q1?2/
1-3

male/
n.a.

PBL

?dn

46,X,r(Y)(p1?1q1?2)

GTG

normal, infertile

{1173, 1 case}
RC/O-
0Y-
p1?1q1?2/
1-4

male/
n.a.

PBL

?dn

46,X,r(Y)(p1?1q1?2)

GTG

normal, infertile

{1174, 1 case}
RC/O-
0Y-
p11.3q11.23/
1-1

male/
29y

PBL

?dn

46,X,r(Y)(p11.3->q11.23::
q11.23->p11.3)

dynamic mosaicism: 45,X/46,X,r(Y)

GTG

normal, infertile

 {541, case 29}
RC/O-
0Y-
p11.3q11.23/
2-1

male/
29y

PBL

?dn

46,X,r(Y)(p11.3q11.23)

dynamic mosaicism: 45,X/46,X,r(Y)

GTG

normal, infertile

 {1181, 1 case}
RC/O-
0Y-
p11.3q12/
1-1

male/
29y

PBL

?dn

46,X,r(Y)(p11.3q12)

dynamic mosaicism: 45,X[13]/46,X,r(Y)[37]

GTG

normal, infertile

 {1180, case 5}
RC/O-
0Y-
p11.32q11.21/
1-1

male/
31y

PBL

?dn

 46,X,r(Y)(p11.32q11.21)

GTG

normal, infertile

 {908}
RC/O-
0Y-
p11.32q11.23/
1-1

male/
42y

PBL

?dn

 46,X,r(Y)(p11.32q11.23)
dynamic mosaicism: 45,X[8]/46,X,r(Y)[92]

GTG

normal, infertile, azoospermia

 {1176}
RC/O-
0Y-
p11.32q11.23/
1-2

male/
43y

PBL

?dn

 46,X,r(Y)(p11.32q11.23)

GTG

normal, infertile, azoospermia

 {1178}
RC/O-
0Y-
p11.32q11.23/
1-3

male/
adult

PBL

?dn

 46,X,r(Y)(p11.32q11.23)

GTG

normal, infertile, azoospermia
after ICSI - r(Y) in mosaic in female

 {1179}
RC/O-
0Y-
p11.32q12/
1-1

male/
adult

PBL

?dn

 46,X,r(Y)(p11.32q12)
dynamic mosaicism: 46,X,r(Y)[74]/45,X[30]

GTG
FISH
aCGH

father normal and fertile;
unborn with Klinefelter syndrome and r(Y)

{1175}

Cases with clinical findings (W)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		karyotype
 		test
methods
 		general clinical symptoms
 		Reference
RC/W-
0Y-
p1?1q1?2/
1-1

male/
n.a.

PBL

?dn

 46,X,r(Y)(p1?1q1?2)

GTG

no details provided

 {582, 1 case}
RC/W-
0Y-
p1?1q1?2/
1-2

male/
n.a.

PBL

?dn

 46,X,r(Y)(p1?1q1?2)

GTG

no details provided

 {595, 1 case}
RC/W-
0Y-
p1?1q1?2/
1-3

male/
n.a.

PBL

?dn

 46,X,r(Y)(p1?1q1?2)

GTG

no details provided

 {1168}
literature not accessible
RC/W-
0Y-
p1?1q1?2/
1-4

male/
n.a.

PBL

?dn

 46,X,r(Y)(p1?1q1?2)

GTG

no details provided

 {1169}
literature not accessible
RC/W-
0Y-
p1?1q1?2/
1-5

female/
23y

PBL

?dn

 46,X,r(Y)(p1?1q1?2)

GTG

phenotype female

 {1170}
RC/W-
0Y-
p1?1q1?2/
1-6

male/
newborn

PBL

?dn

 46,X,r(Y)(p1?1q1?2)

GTG

ambigous genitalia

 {1171}
RC/W-
0Y-
p1?1q1?2/
2-1

male/
25y

PBL

?dn

 46,X,dr(Y)(p1?1q1?2)
dynamic mosaicism: 46,X,dr(Y)/47,X,dr(Y)x2

GTG

abnormal genitals,
overgrowth

 {1172}
RC/W-
0Y-
p11.3q12/
2-1

male/
11y

PBL

?dn

46,X,r(Y)(p11.3->q12::q12->p11.3)
dynamic mosaicism:
46,X,dr(Y)[92]/46,X,terar(Y)[8]/
47,X,tetrar(Y)x2[1]/
46,X,r(Y)(p11q12)[4]/45,X[158]

Subtelomer Ypter absent, and Yqter present

GTG
FISH

growth delay

 {595, case 40;
1177}