Skip to main content

Table 1 The clinical characteristics of DD/MR patients with or without subtelomeric aberrations

From: Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

Clinical Characteristics

Patient with subtelomeric imbalance confirmed by MLPA and Array (23 patients)

N (%)

Patients without sub-telomeric aberrations (428 patients)

N (%)

Gender, M/F

10/13

300/128

Age

1.9 y (6 m-7 y 10 m)

4.2 y (4 m-29 y)

Seizure

3 (13.0)

117 (27.3)

Autistic features

0 (0.0)

0 (0.0)

Family history of DD/MR

3 (13.0)

64 (15.0)

Maternal history of miscarriages

3 (13.0)

9 (2.1)

Microcephaly

11 (47.8)

104 (24.3)

Macrocephaly

0 (0.0)

17 (4.0)

Low birth weight

7 (30.4)

32 (7.5)

Growth delay

5 (21.7)

104 (24.3)

Minor facial and non-facial dysmorphism

18(78.3)

217 (50.7)

Other congenital abnormalities

9 (39.1)

63 (14.7)