ChromosOmics - Database

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                                                  -  Y-CHROMOSOME -                                                 
NORMAL
 
 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 without clinical findings (O)

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-
O-
pter/
1-1 		male/
prenatal 		AF
 		de novo
 		47,X,i(Y)(qter→q11.221::q11.221→qter),+i(Y)(q11.221) n.a.
 FISH multiple BAC probes detected prenatally due to elevated blood serum AFP, by normal after birth; at 2 y an undescended testis surgically corrected; normal boy at 11y {21}
0Y-
O-
pter/
2-1 		male/
26y 		PBL
 		n.a.
 		47,XYqh-,+mar[28]/
46,XYqh-[22] 		del(Y)(q11.1) aCGH, FISH infertile {26}
0Y-
O-
pter/
3-1 		male/
26y 		PBL
 		n.a.
 		47,XY,+mar[32]/
46,XY[18] 		del(Y)(q11.23) aCGH, FISH infertile {27}
0Y-
O-
p11.1/
1-1 		female/
27y 		PBL n.a. 47,XX,+mar[?%]/
46,XX[?%] 		r(Y)(::p11.1→?q11.2::) FISH, PCR phenotypically normal woman, ICSI-patient {11}
{23} case Y-1
0Y-
O-
p11.1/
2-1 		male/
prenatal 		AF n.a. 47,XY,+mar[30]/
46,XY
 		min(Y)(:p11.1→q11.1:) cenM; subcenM studied due to AMA; normal at birth {29} case 6
0Y-
O-
q11.1/
1-2
PBL n.a. 47,XY,+inv dup(Y)(q11.?1)[100%] n.a. subcenM normal male azoospermia {23} case Y-2

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

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
0Y-
O-
IMB-
q11/
1-1 		male/
adult 		PBL (paternal) 46,X,der(Y)(pter→p11.23::q12→q11.1::p11.23→qter) wcp Y normal males (brothers) - abortions in female partner of one {16}

O-cases with unclear/insufficient characterization of the sSMC (CO)

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-
CO-
1 		male/
prenatal 		AF de novo 47,XY,+r[10]/
46,XY[19] 		r(Y)(::p?→q12::)* SKY; SatIII probe AMA; pregnancy continued and normal child born, which develops normal at age of 3y {3} case 1
{15} case 106
{23} case Y-3
0Y-
CO-
2 		see 15-CO-1
0Y-
CO-
3
 		n.a./
prenatal 		AF de novo 47,+mar[10]/
46[10] 		r(Y) cen probes
wcp Y 		AMA; normal child at 2y {13} case 14