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Table 2 Summary of array CGH and cytogenetic analyses in 4073 prenatal casesa

From: Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Case (number)

Array CGH analysis b

Cytogenetic analyses c

  

Aneuploidy

1 (1)

Duplication of whole chr.13

Trisomy 13

2 (7)

Duplication of whole chr.18

Trisomy 18

3 (28)

Duplication of whole chr.21

Trisomy 21

4 (6)

Duplication of whole chr.X

47,XXX

5 (7)

Duplication of whole chr.X

47,XXY

6 (1)

Duplication of whole chr.X

Mos 47,XXY [18]/48,XXY,+17 [2]

7 (1)

Copy number ratio of less than one copy loss at chr. 9

Mos 47,XXX [29]/48,XXX,+9 [11]

8 (1)

Copy number ratio of less than one copy loss at chr.X

Mos 47,XXY [32]/46,XY [8]

9 (1)

Duplication of whole chr.X and 18

48,XXY,+18

10 (1)

Duplication of long arm at Xq10qter/whole chr. 9

47,X,i(X)(q10),+9

11 (4)

Deletion of whole chr.X

45,X

12 (1)

Copy number ratio of less than one copy loss at chr.X

Mos 45,X [22]/46,XX [8]

13 (1)

Copy number ratio of less than one copy loss at chr.X

Mos 45,X [10]/46,XX [20]

  

Deletion/Microdeletion

14 (2)

Deletion of 0.5Mb at 2q13

46,XX,ish del(2)(q13q13)(NPHP1-)

15 (1)

Deletion of 0.4Mb at 7q11.23

46,XY.ish del(7)(q11.23q11.23)(ELN-)

16 (2)

Deletion of 0.4Mb at 17p11.2

46,XX.ish del(17)(p11.2p11.2)(D17S29-)

 

Deletion of 0.4Mb at 17p11.2

46,XY.ish del(17)(p11.2p11.2)(D17S29-)

17 (1)

Deletion of 0.5Mb at Xp22.31

46,XY.ish del(X)(p22.31p22.31)(STS-)

18 (1)

Deletion of 25Mb at Xq24qter

46,X,del(X)(q24qter)

  

Duplication/Microduplication

19 (1)

Duplication of 10Mb at 1q42q44

46,XY.ish dup(1)(q42.1q44)(D1S491+)

20 (2)

Duplication of 1.3Mb at 15q11.2q12

46,XX.ish dup(15)(q11.2q12)(SNRPN+)

21 (2)

Duplication of 1.5Mb at 22q11.2

46,XY.ish dup(22)(q11.2q11.2)(COMT+)

22 (1)

Duplication of 0.5Mb at Xp22.31

46,XX.ish dup(X)(p22.31p22.31)(KAL1+)

23 (1)

Duplication of 0.5Mb at Xp21.2

46,XY.ish dup(X)(p21.2p21.2)(DMD+)

24 (1)

Duplication of 5Mb at Xq27.2qter.

46,XY,ish dup(X)(q27.2qter)(DX904+)

  

Small supernumerary marker chromosome

25 (2)

Normal

47,XX,+mar

 

Normal

47,XY,+mar

26 (80)

Normal

Othersd

  1. aData compiled from array CGH and cytogenetic analyses in 4033 AF and 40 CV by the major indications for prenatal testing such as advanced maternal age, fetal ultrasound anomalies, and elevated serum alpha fetoprotein .blog2 mean green/red (G/R) ratios more than the mean + 2.5 SD (~ 0.25) were considered high amplifications or gains of the indicated copy number, and less than the mean -2.5 SD (~ -2.5) were considered high losses of the copy number.cperformed by karyotype and FISH analyses. FISH analyses were performed using specific BAC clones. dStructural balanced arrangements (inversion and translocation).
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Molecular Cytogenetics

ISSN: 1755-8166