TL

ChromosOmics - Database

Icon by Leon Liehr

- 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

References

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)(pter→p11.2: :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 from 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	-	-	-	-	-	-	-