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Table 1 Summary of fourteen cases showing marker chromosomes

From: Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

Case No.

Gender

Age at testing

Karyotype

Chr. Origin

Size

Inheritance

Phenotype

Molecular cytogenetic method

Molecular cytogenetic method results

Fig

1

female

19 y

mos 45,X[25]/46,X,+mar[5]

X

<20

NE

Short stature, Primary amenorrhea

Centromeric FISH

nuc ish(DXZ1x1)[340/400]/nuc ish(DXZ1x2)[60/400]

Fig. 1

2

female

1 m

47,XX,+der(12;18)(p10;p10)

der(12;18)(p10;p10)

<20

paternal

Incomplete cleft palate,

M-FISH

ish der(12;18)(wcp12+,wcp18+) pat

Fig. 2

Developmental coordination disorder,

Developmental delay

3

female

25 m

mos 47,XX,+mar[24]/46,XX[6]

15

~20

NE

Developmental delay, Failure to thrive

Centromeric FISH

ish idic(15)(D15Z1++, D15S11-)

Fig. 3a, 3b

4

male

prenatal

47,XY,+mar

15

~20

maternal

NA

Centromeric FISH, M-FISH

ish idic(15)(wcp15+, D15Z1++, D15S11-) mat

Fig. 3c, 3d

5

female

32 m

47,XX,+mar

15

~20

maternal

Developmental delay

Centromeric FISH, Array CGH

ish der(15)(D15Z1+).arr[hg19]15q11.1q13.1(20,102,541-28,525,460)x3 mat

Fig. 3e

6

male

prenatal

mos 47,XY,+mar[14]/46,XY[26]

14

<20

NE

NA

Centromeric FISH, M-FISH

ish der(14)(D14Z1+,wcp14+)

Fig. 4a

7

NA

NA

NA

22

<20

NE

NA

Centromeric FISH, M-FISH

ish idic(22)(D22Z1++, wcp22+)

Fig. 4b

8

female

11 y

mos 47,XX,+mar[45]/46,XX[5]

14 or 22

<20

maternal

Short stature

Centromeric FISH, M-FISH

ish der(14/22)(D14Z1/D22Z1+) mat

Fig. 4c

9

female

prenatal

mos 46,XX,min[4]/46,XX[11]

6

<20

de novo

NA

Centromeric FISH, M-FISH

ish der(6)(wcp6+) de novo

NA

10

female

8 y

mos 47,XX,+mar[5]/46,XY[45]

16

<20

NE

Short stature,

M-FISH

ish der(16)(wcp16+)

Fig. 7a

Elevated TSH level

11

male

18 m

mos 47,XY,+mar[14]/46,XY[26]

19

<20

de novo

Developmental delay

M-FISH

ish der(19)(wcp19+) de novo

Fig. 7b

12

female

10 y

47,XX,+mar

2

<20

maternal

Short stature, Developmental delay

Array CGH

arr[hg19]2q11.1q12.3(95,529,039-108,083,956)x3 mat,18p11.32p11.31(142,096-5,853,122)x1 dn

Fig. 5a

13

male

2 m

mos 47,XY,+mar[8]/46,XY[42]

2

<20

de novo

Prematurity, Developmental delay, ASD

Array CGH, FISH

arr[hg19]2q11.1q12.1(95,529,039-105,358,887)x3 dn,7q11.23(72,726,578-74,139,390)x3 mat

Fig. 5c,

Fig. 6

14

male

20 m

mos 48,XY,+2mar[16]/47,XY,+mar[9]/46,XY[5]

NE

<20

de novo

Developmental delay

NE

NE

NE

  1. Chr chromosomal, CGH comparative genomic hybridization, M-FISH whole chromosome painting multicolor- fluorescence in situ hybridization, NA not available, NE not established