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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.