Table 1 Summary of clinical features of the eight patients with 11q23-qter interstitial deletions and our present cases

Number

8

1

1

Region

11q23-q25

11q23.3q24.

11q24.2

Deletion size (Mb)

2.89–12.8

1.6

0.76

Gender

3 m/5f

f

m

Age

Ranges from newborn to adult

4 years

10 months

Birth weight

Low-normal

~15thpercentile

25–50th percentile

Hypotonia

-

+

-

Macrocephaly

2

-

relative macrocephaly

Microcephaly

2

relative microcephaly

-

Trigonocephaly

1

-

-

Prominent forehead

1

+

-

Hypertelorism

2

mild

mild

Palpebral fissure anomalies

4

+

-

Ear anomalies

4

-

-

Nasal anomalies

3

+

+

Mouth anomalies

3

+

+

Limb anomalies

2

+

-

Cardiovascular anomalies

4

-

-

Hematological anomalies

3

-

-

Developmental delay/intellectual disability

6

+

+

Social interaction difficulties

2

-

NA