Table 1 Genetic and clinical information of two families with 16p11.2 deletion and neutropenia/lymphopenia.

From: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Family

Individual

Gender

16p11.2 CNV status

BOLA2 CN

Exome

Age blood test (years)

WBC (109 cells/L blood)

NTR (109 cells/L blood)

LYM (109 cells/L blood)

1

Proband

M

Deletion carrier

3

1

5

2.9

0.67

1.48

      

5

2

0.22

1.14

      

5

2.8

0.59

1.54

      

14

4.3

2.36

1.41

1

Mother

F

Euploid

4

1

44

5.7

3.08

2.13

1

Father

M

Deletion carrier

4

1

46

4.8

2.77

1.50

1

Sibling 1

F

Deletion carrier

3

0

13

4.3

2.24

1.67

1

Sibling 2

F

Deletion carrier

3

1

11

3.3

1.54

1.30

2

Proband

M

Deletion carrier

3

1

7

3.2

0.83

1.57

      

8

4.25

1.34

1.79

      

12

2.86

0.58

1.19

2

Mother

F

Deletion carrier

4

1

–

NA

NA

NA

2

Father

M

Euploid

NA

1

–

NA

NA

NA

2

Sibling

M

Deletion carrier

4

1

–

NA

NA

NA

  1. WBC white blood cell counts, NTR neutrophil counts, LYM lymphocyte counts.
  2. Values in bold are below the reference range (we considered for each individual the reference range reported by the laboratory where the analysis was performed. Generally, WBC counts are 4.5–11 × 109 cells/L; neutrophil counts are 1.5–7 × 109 cells/L; lymphocyte counts are 1.5–4 × 109 cells/L).
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