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Table 1 A summary of sSMC(15) defined by karyotype, aCGH or SNP, and methylation analyses

From: Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature

SMC15

Test Methods

Patient Number

Age

Gender

Inheritance

BP Fusion

Methylation

References

G-banding

aCGH/SNP

FISH

Methylation

trc(15), idic(15)

+

Nimblegen

+

MS-SB

2

11y, 26y

M, F

de novo

BP3::BP3, BP4::BP5

Maternal

[22] Hogart A, et al., 2009

rea(15), inv dup(15)

+

Affymetrix

+

MS-PCR

2

5y, 9y

M, M

de novo

BP4::BP5, BP4::BP5

Maternal

[23] Yang J, et al. 2013

inv dup(15) or idic(15)

+

Agilent & Illumina

+

MS-MLPA

8

1.7y-14.5y

M(3), F(5)

de novo

BP3::BP3,BP2-BP3::

Maternal

[17] Ageeli EA, et al. 2014

der(15)t(15q;6p)

    

1

7y

M

paternal carrier

BP2-BP3::

Paternal

 

del(15)[14]/psu dic(15)[4]

+

Agilent

+

MS-PCR

1

2y

F

de novo

BP3::BP3

Maternal

[24] Tan E-S, et al. 2014

idic(15)

+

Agilent

+

MS-MLPA

20

3 m-23y

M(13), F(7)

1 de novo, 19 unk

BP3::BP3 or BP4, BP4::BP4 or BP5

Maternal

[25] Aypar U, et al. 2014

idic(15)

+

Agilent

+

MS-MLPA

1

3y

F

de novo

BP3::BP3

Maternal

This report

r(15)

+

Agilent

+

MS-MLPA

2

1d, 7y

M, M

unk

BP2/BP3::,BP3::BP3

Maternal

[25] Aypar U, et al. 2014

r(15)

+

Agilent

-

MS-MLPA

1

6y

F

de novo

BP5::BP5> > BP2/BP3::BP3/BP4

Maternal

This report

  1. Abbreviations: MS methylation sensitive, SB Southern blot; + = yes; − = not; m = month; y = year; unk, unknown