Duplication Maps of Human Malformations

Condition

No. of cases

All significantly associated bands

(p<0.05)

Highly significantly associated bands (p<0.001)

Craniofacial

Cleft Palate

218

3p24-23, 3p26, 3q23-25, 7q22-32, 8q21, 10p15-11, 14q11-21, 16p12-13, 22q12-13

Cleft Lip

81

3p26-21, 10p15-11, 11p14-11, 13q22-34

3p26-21, 10p15-11

Micrognathia

669

10q24, 18q12-23

Choanal atresia

6p25-21, 7p22-14, 8q22-24

7p22-15

Cardiac

Patent Ductus Arteriosus

110

1q25-41, 7p14, 16q11-24

16q22

Atrial Septal Defect

131

1q25-41, 1q43, 3p26-23, 3q21-22, 5q31-32, 5q35, 7p14, 8q22-24

Ventricular septal defect

178

1q25-32, 3p26-21, 3q26-29, 8q22-24, 16q11-24

8q24

Atrio-ventricular septal defect

13

4q11-13, 10q24-26, 11q23-25, 12q13, 20q11-12

Pulmonary Stenosis

52

1q25-31, 36p25-21, 8q22-24

8q22-24

Hypoplastic Left Heart

12

1p35-32, 8p12-11, 12p11, 16q11-24

16q11-12

Aortic Stenosis

18

17q25

Truncus Arteriosus

10

1p35-33, 1q32-44

Tetralogy of Fallot

34

1p33-35, 8q22-24, 16p11

8q22-24

Coarctation

24

6q21-22, 8p23-11, 16q22-24

Skeletal and Limb

Scoliosis

173

4p16-11, 10q24-26, 15q23-26

4p16-11, 10q25-26

Pectus Excavatum

95

2p25-24, 5p12, 5p15, 15q22-26, 18q21-23

15q23-26

Talipes Equina Varus

199

6q21-27, 10p15-11

6q25, 10p15-11

Syndactyly of fingers

51

5q11, 5q13, 9p11-24

9p11-24

Postaxial Polydactyly

58

13q14-34, 17q23-25

13q14-34, 17q23-25

Split hand

5q15-31

Absent sacrum

2

15q12-13, 17q23-25

Gastrointestinal

Small bowel atresia

12p13-11, 15q12

15q12

Anal Atresia

18

3q25-29, 22q11-12

HirschprungÕs syndrome

4

17q21-23

Intestinal malrotation

33

3q21-29, 11p11-15

11p11-15

Umbilical hernia

107

4q25-35, 11p15, 13q31-34, 14q11-13

Genitourinary

1q11-22, 3q12-13, 11p13-11

Renal Agenesis

22

10p12-11, 14q22

Multiple renal cysts

40

3q21-29, 10p15-11, 17q23-25

Hydronephrosis

65

NONE

Hypospadias

2q35-37, 8q12, 16q21-24

Cryptorchidism

1q41, 4q28-35, 8q24

Inguinal hernia

114

5q33-35, 13q22-34, 17p13

Ambiguous genitalia

5

NONE

Ocular

Microphthalmia

116

1q31-41, 6p25-21, 10q24-26, 13q14-34, 14q11-13, 20q13, 22q11

Coloboma

46

1q31-41, 5p15-13, 10q21, 13q32-34, 17q21-22, 22q11

Cataract

36

3q21, 3q25-29, 6p25-22

Aniridia

2

NONE

Anophthalmia

2

4q11-21, 7q21

Glaucoma

18

3q21-29

3q22, 3q25-29

CNS

Microcephaly (prenatal)

196

5q31, 5q33, 5q35, 6q23-24, 9q11-12, 9q22, 16q11-21

Hydrocephalus

154

1q42-44, 5p12-11, 8p23-21, 12q24

Holoprosencephaly

30

3p26-23, 3q23, 5q31-33, 6p21

Agenesis corpus callosum

44

3q25, 8p23-11

8p23-21

Lissencephaly

0

NONE

Craniosynostosis

18

2p11, 2q11-12, 6p25-21, 16q11-13

Trigonocephaly

24

6p11, 13q14-34

13q21-34

Scalp defects

6

11q13, 13q11-14, 16q11-24