Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review

Table 1

Summary of 47, XY, +mar/46, XY cases associated with spermatogenesis disturbance based upon sSMC database (http://ssmc-tl.com/sSMC.html).

No.	sSMC derived from chromosome	Chromosome karyotypic results	Parental origin	Description of the sSMC	Clinical findings
1	1	47, XY, +mar[64]/46, XY[36]	N.A.	min(1) (:p11.1 ⟶ q12:)	OAT
2	4	47, XY, +mar[46]/46, XY[54]	de novo	r(4) (::p12 ⟶ q13.1::)	OAT
3	acro-N-mar	47, XY, +mar[25%]/46, XY[75%]	N.A.	Inv dup (acro) (p10)	OAT
4	acro-N-mar	47, XY, +mar[80%]/46, XY[20%]	N.A.	Inv dup (acro) (p10)	Azoospermia
5	15	47, XY, +mar[?]/46, XY[?]	N.A.	r(15) (::p1? 2 ⟶ q11.1::)	Severe OAT
6	17	47, XY, +mar[10]/46, XY[5]	de novo	min(17) (:p11.2 ⟶ q11.1:)	Asthenospermia
7	20	47, XY, +mar[80]/46, XY[20]	de novo	mar(20)	Asthenospermia
8	X	47, XY, +mar[39%]/46, XY[61%]	N.A.	min(X) (:p11.1 ⟶ q11:)	Klinefelter-phenotype
9	Y	47, XY, +mar[32]/46, XY[18]	N.A.	der(Y) (pter ⟶ q11.23) (SRY-)	Severe oligospermia

N.A., not available; OAT, oligoasthenoteratozoospermia; case of this study.