Table 2 List of 148 chromosomal abnormalities that can be detected by the designed chip.

Osteogenesis Imperfecta type XVI

11

43400000

48800000

Holoprosencephaly 10

1

214400000

236400000

Periventricular nodular heterotopia 5

5

83500000

98900000

Kleefstra Syndrome

9

137618963

137870016

Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related

16

97457

7800000

Sotos Syndrome 1

5

177100001

180076555

Autosomal Dominant Spinocerebellar ataxia 20

11

55800000

63600000

Autosomal Dominant Deafness 51

9

65000000

69300000

Mental Retardation, Autosomal Dominant 1

2

147900001

149000000

Mental Retardation, Autosomal Dominant 20

5

83500001

93000000

Mental Retardation, Autosomal Dominant 39

2

46285

4400000

2q37 Microdeletion Syndrome

2

230100000

242193529

Thrombocytopenia Absent Radius Syndrome

1

143200001

147500000

Chromosome Xp21 Deletion Syndrome

X

24900000

37800000

Open Angle Glaucoma 1P

12

57700000

67300000

46,XY Sex Reversal 4

9

14840

2200000

46,XY Sex Reversal 10

17

64600000

72900000

46,XX Sex Reversal 2

17

69100000

76800000

46,XX Sex Reversal 3

X

134500000

138900000

Phelan-McDermid Syndrome

22

49100001

50818468

Schizophrenia 16

7

155200000

158937659

Smith-Magenis Syndrome

17

16100001

21323189

Y-linked Spermatogenic Failure 1

Y

21867871

26600000

Sensorineural deafness and male infertility

15

43300000

44500000

Split-Hand/Foot Malformation 3

10

95300000

104000000

Williams Syndrome

7

72700000

77900000

22q11.2 Deletion Syndrome

22

17565972

21700000

Angelman Syndrome

15

20743536

25500000

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

11

31000000

36400000

Chromosome 3q13.31 Deletion Syndrome

3

113700000

117600000

Amme Complex

X

104500000

109400000

Choroideremia, Deafness, And Mental Retardation

X

76800000

99100000

Chromosome 10q23 Deletion Syndrome

10

80300000

95300000

Chromosome 10q26 Deletion Syndrome

10

117300000

133797422

Chromosome 13q14 Deletion Syndrome

13

39500000

54700000

Chromosome 14q11-q22 Deletion Syndrome

14

20937674

57600000

Chromosome 15q11.2 Deletion Syndrome

15

20743536

25500000

Chromosome 15q11-q13 Duplication Syndrome

15

20743536

25500000

Chromosome 15q13.3 Deletion Syndrome

15

30900000

33400000

Chromosome 15q24 Deletion Syndrome

15

74900001

76300000

Chromosome 15q25 Deletion Syndrome

15

78000000

88500000

Chromosome 15q26-Qter Deletion Syndrome

15

88500000

101991189

Chromosome 16p11.2 Deletion Syndrome, 220-Kb

16

28500000

35300000

Chromosome 16p11.2 Deletion Syndrome, 593-Kb

16

28500000

35300000

Chromosome 16p11.2 Duplication Syndrome

16

28500000

35300000

Chromosome 16p12.1 Deletion Syndrome, 520-Kb

16

16700000

28500000

Chromosome 16p12.2-p11.2 Deletion Syndrome, 7.1- To 8.7-Mb

16

21200000

35300000

Chromosome 16p13.3 Deletion Syndrome, Proximal

16

97457

7800000

Chromosome 16p13.3 Duplication Syndrome

16

97457

7800000

Chromosome 16q22 Deletion Syndrome

16

66600000

74100000

Chromosome 17p13.1 Deletion Syndrome

17

6500000

10800000

Chromosome 17p13.3, Centromeric, Duplication Syndrome

17

11232

3400000

Chromosome 17p13.3, Telomeric, Duplication Syndrome

17

11232

10800000

Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

17

27400000

33500000

Chromosome 17q12 Deletion Syndrome

17

33500000

39800000

Chromosome 17q12 Duplication Syndrome

17

33500000

39800000

Chromosome 17q21.31 Duplication Syndrome

17

42800000

46800000

Chromosome 17q23.1-q23.2 Deletion Syndrome

17

59500000

63100000

Chromosome 17q23.1-q23.2 Duplication Syndrome

17

59500000

63100000

Chromosome 18p Deletion Syndrome

18

2656065

14852479

Chromosome 18q Deletion Syndrome

18

19321535

77918489

Chromosome 19p13.13 Deletion Syndrome

19

12600000

13800000

Chromosome 19q13.11 Deletion Syndrome

19

31900000

35100000

Chromosome 1p32-p31 Deletion Syndrome

1

60800001

68500000

Chromosome 1p36 Deletion Syndrome

1

948944

27600000

Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

1

143200000

147500000

Chromosome 1q21.1 Duplication Syndrome

1

143200000

147500000

Chromosome 22q11.2 Deletion Syndrome, Distal

22

17565972

25500000

Chromosome 22q11.2 Duplication Syndrome

22

17565972

25500000

Chromosome 22q13 Duplication Syndrome

22

37200000

50818468

Chromosome 2p12-p11.2 Deletion Syndrome

2

74800000

91800000

Chromosome 2p16.1-p15 Deletion Syndrome

2

54700000

63900000

Chromosome 2p16.3 Deletion Syndrome

2

47500001

52600000

Chromosome 2q31.1 Duplication Syndrome

2

168900000

177100000

Chromosome 2q31.2 Deletion Syndrome

2

177100000

179700000

Chromosome 2q35 Duplication Syndrome

2

208200000

230100000

Chromosome 3pter-p25 Deletion Syndrome

3

238269

16300000

Chromosome 3q29 Deletion Syndrome

3

192600000

198295559

Chromosome 3q29 Duplication Syndrome

3

192600000

198295559

Chromosome 4q21 Deletion Syndrome

4

75300000

87100000

Chromosome 4q32.1-q32.2 Triplication Syndrome

4

154600000

163600000

Chromosome 5p13 Duplication Syndrome

5

28900000

42500000

Chromosome 5q Deletion Syndrome

5

150400001

153300000

Chromosome 5q12 Deletion Syndrome

5

59600000

67400000

Chromosome 6pter-p24 Deletion Syndrome

6

393143

13400000

Chromosome 6q11-q14 Deletion Syndrome

6

59800000

87300000

Chromosome 6q24-q25 Deletion Syndrome

6

138300000

160600000

Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

7

72700000

77900000

Chromosome 8q12.1-q21.2 Deletion Syndrome

8

60600000

85900000

Chromosome 8q21.11 Deletion Syndrome

8

72000000

74600000

Chromosome 8q22.1 Duplication Syndrome

8

92300000

97900000

Chromosome 9p Deletion Syndrome

9

14840

43000000

Chromosome Xp11.22 Duplication Syndrome

X

50100000

54800000

Chromosome Xp11.23-p11.22 Duplication Syndrome

X

47600000

54800000

Chromosome Xp11.3 Deletion Syndrome

X

42500000

47600000

Chromosome Xp22 Deletion Syndrome

X

21900001

24900000

Chromosome Xq26.3 Duplication Syndrome

X

134500000

138900000

Chromosome Xq27.3-q28 Duplication Syndrome

X

143000000

154774947

Chromosome Xq28 Duplication Syndrome

X

148000000

154774947

Digeorge Syndrome

22

17565972

21700000

Frias Syndrome

14

50400000

57600000

Glass Syndrome

2

196600001

202500000

Homozygous 11p15-P14 Deletion Syndrome

11

193811

31000000

Hypertrichosis, Congenital Generalized

X

138900000

141200000

Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia

17

66200000

72900000

Hypotonia-Cystinuria Syndrome

2

41500000

47500000

Jacobsen Syndrome

11

110600000

121300000

Mesomelia-Synostoses Syndrome

8

65100000

72000000

Miller-Dieker Lissencephaly Syndrome

17

11232

3400000

Monosomy 7 Of Bone Marrow

7

60100000

159345973

Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism

X

148000000

154774947

Nablus Mask-Like Facial Syndrome

8

92300000

97900000

Omphalocele, Autosomal

1

60800000

68500000

Opitz GBBB Syndrome, Type II

22

23100001

25500000

Otodental Dysplasia

11

63600000

77400000

Pigmented Nodular Adrenocortical Disease, Primary, 4

19

852319

19900000

Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis

16

97457

7800000

Polyposis Syndrome, Hereditary Mixed, 1

15

43300000

59000000

Potocki-Lupski Syndrome

17

16100000

22700000

Potocki-Shaffer Syndrome

11

43400000

48800000

Prader-Willi Syndrome

15

20743536

25500000

Split-Hand/Foot Malformation 1

7

91500000

98400000

Thrombocytopenia, Paris-Trousseau Type

11

110600000

121300000

Trichorhinophalangeal Syndrome, Type II

8

116700000

126300000

Verheij Syndrome

8

138900001

145138636

Williams-Beuren Region Duplication Syndrome

7

72700000

77900000

WAGRO Syndrome

11

31000000

43400000

Wolf-Hirschhorn Syndrome

4

331763

4500000

Congenital Microcoria

13

94400000

101100000

Chromosome 11p13 Deletion Syndrome, Distal

11

31000000

36400000

Chromosome 14q32 Duplication Syndrome, 700-Kb

14

89300000

106322333

Chromosome 15q14 Deletion Syndrome

15

33400000

39800000

Chromosome 16p13.2 deletion syndrome

16

7800000

10400000

Desanto-Shinawi Syndrome

10

24300001

29300000

Yuan-Harel-Lupski Syndrome

17

10800000

22700000

2q33.1 deletion syndrome

2

196600001

202500000

8p23.1 deletion syndrome

8

6300001

12800000

8p23.1 duplication syndrome

8

10167881

10943836

12p13.33 Microdeletion Syndrome

12

1080000

1346471

12q14 microdeletion syndrome

12

65071919

68645525

16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)

16

14986684

16486684

16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus)

16

14986684

16486684

16p11.2-p12.2 microduplication syndrome

16

21475060

29284077

16p11.2-p12.2 microdeletion syndrome

16

21512062

30199854

Xq28 Microduplication

X

153287263

153363188

Xq28 Microduplication

X

153624563

153881853

Leri-Weill dyschondrostosis (LWD) - SHOX deletion

X

215902

3261874

Leri-Weill dyschondrostosis (LWD) - SHOX deletion

Y

2655020

5605993