Table 1 The clinical characteristics recorded for patients with negative (only benign CNVs) and pathogenic (only PCNV) CMA results.

From: A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD

Signs/symptoms

In the cohort (N = 1008)

Negative (N = 706)a

Pathogenic (N = 175)a

p-value

Odds ratio

Characteristics

 Obesity

3% (33)

2% (17)

5% (8)

0.076

0.46

 Low weight

5% (55)

2% (34)

9% (16)

0.010*

0.44

 Abnormal growth

3% (29)

3% (21)

3% (5)

1

1.04

 Short stature

10% (104)

9% (67)

14% (23)

0.05

0.60

 Slender build

3% (34)

3% (20)

5% (8)

0.233

0.61

 Prenatal problems

4% (36)

3% (23)

4% (6)

0.817

0.95

Neurodevelopment

85% (854)

85% (600)

83% (146)

0.639

1.12

 Developmental delay

56% (569)

53% (377)

70% (119)

0.0003***

0.53

 Motor development delay

8% (85)

7% (46)

12% (20)

0.036*

0.54

 Deafness or hearing loss

3% (31)

3% (19)

4% (7)

0.218

0.58

 Speech and language delay and/or dyslalia

21% (216)

21% (151)

26% (44)

0.224

0.79

 Difficulty of learning

6% (60)

7% (47)

4% (9)

0.603

1.32

 Intellectual disability

33% (330)

31% (216)

41% (69)

0.014*

0.65

 Mild

4% (37)

3% (24)

2% (4)

–

–

 Moderate

2% (16)

2% (11)

2% (4)

–

–

 Severe

2% (19)

2% (11)

2% (4)

–

–

 Not specified

26% (258)

24% (170)

34% (57)

–

–

 Intellectual disability and/or developmental delay

83% (834)

65% (456)

76% (129)

0.025*

0.65

Behavioral

 

–

–

  

 Behavioral changes (obsessive–compulsive disorder, attention deficit hyperactivity disorder, self and hetero-aggression, behavior disorder, psychosis)

12% (122)

11% (79)

14% (23)

0.509

0.83

 Autism spectrum disorder

33% (333)

36% (255)

20% (34)

0.0001****

2.18

Congenital malformation(s) and/or dysmorphism(s)

56% (563)

–

–

  

Facial malformations/dysmorphisms

47% (471)

43% (305)

65% (110)

0.0001****

0.42

Other congenital malformations

 

–

–

  

 Musculoskeletal (scoliosis, diaphragmatic hernia, vertebral anomaly)

4% (42)

4% (29)

2% (4)

0.830

1.21

 Upper limb anomalies

8% (79)

6% (40)

15% (25)

0.0003***

0.36

 Lower limb anomalies

8% (83)

6% (45)

15% (25)

0.0015***

0.41

 Heart anomalies and malformations

8% (79)

7% (48)

12% (20)

0.018*

0.51

 Gastrointestinal anomalies and malformations

4% (44)

4% (25)

6% (10)

0.1955

0.61

 Genitourinary anomalies and malformations

4% (44)

4% (26)

9% (15)

0.004**

0.38

Neurologic abnormality

24% (239)

22% (155)

29% (50)

0.071

0.70

 Epilepsy

6% (62)

6% (42)

5% (8)

0.856

1.17

 Ataxia

2% (18)

1% (10)

2% (4)

0.495

0.61

 Hypotonia

7% (70)

7% (51)

8% (14)

0.746

0.90

 Abnormal brain structure

11% (112)

10% (72)

14% (24)

0.177

0.71

 Seizures

6% (61)

5% (37)

6% (10)

0.850

0.91

Endocrinological abnormalities

4% (39)

3% (21)

5% (8)

0.340

0.64

Cutaneous abnormalities (hyper and hypopigmentation, hemangioma, freckles, café-au-lait spots and others)

3% (29)

2% (16)

4% (7)

0.192

0.56

Hematologic abnormalities

2% (19)

2% (14)

1% (2)

0.751

1.75

  1. aComparison groups diagnosed with pathogenic CNVs (diagnosed) versus the groups without clinically relevant CNVs (no CNVs or only benign CNVs). Cases where VUS and LPCNVs was the most relevant finding (128 individuals) were not considered in the correlation, because they represent inconclusive diagnosis.
  2. *Significant statistical correlation found between pathogenic CNV and phenotype (p ≤ 0,05), **p ≤ 0,005, ***p ≤ 0,0005 and ****p ≤ 0,0001.
  3. Significant values are in bold.
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