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

                                                  Y-CHROMOSOME -                                                 
NEOCENTRIC
 
Cases without clinical findings
Similar imbalances – no sSMC
Cases with clinical findings
Similar imbalances – no sSMC
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER
In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!


UPD (uniparental disomy) cases: UPD(Y)mat UPD(Y)pat UPD(Y)mat or pat

Cases with neocentromeres (N)

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding result
grade of mosaicism

final result of the sSMC
test
methods

clinical symptoms
Reference
0Y-
N-

pt11.2/
1-1
male/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(Y)(pterp11.2:
:p11.2
pter)
aCGH: pter to 10.07 MB
midi, subcenM;
aCGH
AMA, normal in ultrasound; TOP; no abnormalities observed {19; 24}
{20} case P-11
{0}
0Y-
N-

pt11.2/
2-1
male/
adult
PBL n.a. 47,X,i(Y)(q10),+mar[100%] idic(Y)(p11.2),
 neo(Y)(pter→Yp11.2:
:Yp11.2→pter).
FISH; SRY infertile, azoospermia {28}
0Y-
N-

qt11.23/
1-1
female/
28y
PBL n.a. 47,XX,+mar[100%] inv dup(Y)(qter→q11.23:
:q11.23→qter)
midi normal female, infertile {0} provoded by Dr. Wagner and Stibbe, Hannover, Germany


other neocentromere Y cases (no sSMC):

Bukvic N, Susca F, Gentile M, Tangari E, Ianniruberto A, Guanti G.
An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite.
Hum Genet. 1996 Apr;97(4):453-456.


Rivera H, Dominguez MG, Vasquez AI, Ramos AL, Fragoso R.
Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y.
Hum Genet. 1993 Nov;92(5):522-524.


Tyler-Smith C, Gimelli G, Giglio S, Floridia G, Pandya A, Terzoli G, Warburton PE, Earnshaw WC, Zuffardi O.
Transmission of a fully functional human neocentromere through three generations.
Am J Hum Genet. 1999 May;64(5):1440-4.


Warburton PE, Cooke CA, Bourassa S, Vafa O, Sullivan BA, Stetten G, Gimelli G, Warburton D, Tyler-Smith C, Sullivan KF, Poirier GG, Earnshaw WC.
Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres.
Curr Biol. 1997 Nov 1;7(11):901-904.


Floridia G, Gimelli G, Zuffardi O, Earnshaw WC, Warburton PE, Tyler-Smith C.
A neocentromere in the DAZ region of the human Y chromosome.
Chromosoma. 2000;109(5):318-27.


Conde C, Chheng S, Wu J, Santini M, Kashork CD, Ware S, Scaglia F, Shaffer LG
A novel analphoid marker of the Y chromosome.
Am J Hum Genet 2001; Suppl 69:A765


Assumpcao JG, Berkofsky-Fessler W, Viguetti Campos N, Trevas Maciel-Guerra A, Li S, Melaragno MI, Palandi de Mello M, Warburton PE.
Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence.
Am J Med Genet. 2002 Dec 1;113(3):263-7.





Cases with neocentromeres (N) - TUMOR

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding result
grade of mosaicism

final result of the sSMC
test
methods

clinical symptoms
Reference
0Y-
N-
IMB-
p or q/
1-1
-
-
-
-
-
-
-
-

N-Cases with similar imbalances NOT caused by sSMC (N-IMB):

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding and final FISH result test
methods

clinical symptoms
Reference
0Y-
N-
p or q/
1-1
-
-
-
-
-
-
-