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)