Table 2

Checklist for patients with submicroscopic subtelomeric rearrangements

Items Score
Family history of mental retardation
 Compatible with Mendelian inheritance1
 Incompatible with Mendelian inheritance2
 (including discordant phenotypes)
Prenatal onset growth retardation2
Postnatal growth abnormalities2
 For each of the following 1 point (max 2)
  Microcephaly (1), short stature (1)
  Macrocephaly (1), tall stature (1)
⩾2 facial dysmorphic features2
 Notably hypertelorism, nasal anomalies, ear
Non-facial dysmorphism and congenital abnormalities2
 For each anomaly 1 point (max 2)
  Notably hand anomaly (1), heart anomaly (1),
  hypospadias +/− undescended testis (1)