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Table 3 Summary of array CGH and cytogenetic analyses in 1007 postnatal 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

Involved Gene(s)

Clinical indications

  

Aneuploidy

  

1 (3)

Duplication of whole chr.21

Trisomy 21

 

DD,MR

2

Duplication of whole chr.X

47,XXY

 

Klinefelter's syndrome

3

Duplication of whole chr.Y

47,XYY

  
  

Deletion/Microdeletion

  

4

Deletion of 15Mb at 2q14q21.1

46,XY, der(2)t(2;6)(q21.1;q23)

Multiple

DD,MR

  

inv(2)(q14.1q37), der(6)t(2;6)(q21.1;q23)

  

5

Deletion of 1Mb at 3q23q25

46,XY. ish del(3)(q23q25)(D3S1557-)

ZIC1,4

DD,IA, CP

6

Deletion of 0.5Mb at 3q29

46,XY, ish del(3)(q29q29)(MF12-)

PAK2,DLG1

DD

7

Deletion of 1Mb at 4p16.3

46,XX, del(4)(p16.3p16.3)

WHSC1

WHS

8

Deletion of 0.8Mb at 4q35.1qter

46,XX.ish del(4)(q35.1qter)(D4S187-)

Multiple

DD

9(2)

Deletion of 0.8Mb at 5p15.3

46,XY.ish del(5)(p15.3p15.3)(D5S2774-)

Multiple

DD,MR

10

Deletion of 0.5Mb at 5q35.2

46,XY.ish del(5)(q35.2q35.2)(NSD1-)

NSD1

Sotos syndrome

11(2)

Deletion of 0.4Mb at 7q11.23

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

ELN

Williams syndrome

12

Deletion of 5Mb at 10p12.4p14

46,XY. ish del(10)(p12.4p14)(D10S585-)

NEBL

DGS2

13

Deletion of 0.5Mb at 12q14.3

46,XY.ish del(12)(q14.3q14.3)(D12S1448- )

LEMD3

DD

14

Deletion of 5Mb at 14q32.2qter

46,XX.ish del(14)(q32.2qter)(SHGC172944-)

Multiple

DD

15(2)

Deletion of 0.5Mb at 15q11.2q11.2

46,XY.ish del(15)(q11.2q11.2)(SNRPN-)

SNRPN

PWS

16

Deletion of 0.4Mb at 17p11.2

46,XY.ish del(17)(p11.2p11.2)(PMP22-)

PMP22

 

17

Deletion of 0.8Mb at 18p11.32

46,XX, ring(18)(p11.32q23)

Multiple

DD

18 (2)

Deletion of 2.5Mb at 22q11.2

46,XY.ish del(22)(q11.2q11.2)(D22S75-)

TBX1

DGS

19 (3)

Deletion of 0.5Mb at Xp22.31

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

STS

ichthyosis, ADHD

20

Deletion of 1Mb at Yq11.2qter

46,X.ish del(Y)(q11.2qter)(CDY1-)

CDY1

Azoospermia

  

Duplication/Microduplication

  

21

Duplication of 5Mb at 1q42.2qter

46,XY.ish dup(1)(q42.2qter)(D1S204+)

Multiple

 

22

Duplication of 0.5Mb at 2q13

46,XX.ish dup(2)(q13q13)(NPHP1+)

NPHP1

 

23

Duplication of 3Mb at 15q11.2q12

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

SNRPN

DD,Autism,PD

24

Duplication of 0.9Mb at 21q22 & Deletion of 0.5Mb at 21q22

46,XY.ish del(21)(q22q22), dup(21)(q22q22)(D21S1898+)

Multiple

DD

25 (2)

Duplication of 0.9Mb at 22q11.2

46,XY.ish dup(22)(q11.2q11.2)(D22S75+)

TBX1

DD

26

Duplication of 0.9Mb at Yp11.2pter

46,X.ish i(Y)(p11.2pter)(DYS289+)

SRY

Azoospermia

27

Duplication of 3Mb at Yq11.2qter &

46,X.ish del(X)(p22.31p22.31),

STS

Short stature,ADHD

 

Deletion of 0.5Mb at Xp22.31

dup(Y)(q11.2qter)(STS-,CDY1+)

CDY1

 
  

Small supernumerary marker chromosome

  

28

Duplication of 3Mb at 18p11.2p11.3

47,XY,+der(18)(p11.2p11.32)

Multiple

DD

29

Duplication of 0.9Mb at 22q11.2qter

47,XY,+mar.ish i(22)(q11.2qter)(D22S43+)

Multiple

Cat eye syndrome

30

Duplication of 2Mb at 22q11& 3Mb at 11q23

47,XX,+mar.ish +der(22)t(11;22)(q23;q11) (CES+,D11S4145+)

Multiple

Emanuel syndrome

  1. DD, developmental delay; MR, mental retardation; IA, imperforated anus; CP, cleft palate; WHS, Wolf-Hirschhorn syndrome; DGS, DiGeorge syndrome; PWS, Prader-Willi syndrome; ADHD, Attention Deficit Hyperactivity Disorder; PD, Pigmentation disorder
  2. aData compiled from 407 PB and 600 CB.
  3. blog2 mean green/red 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 (~ -0.25) were considered high losses of the copy number.
  4. cperformed by karyotype and FISH analyses. FISH analyses were performed using specific BAC clones.
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Molecular Cytogenetics

ISSN: 1755-8166