Table 1

Clinical features of patients with a CTCF deletion

Patient 1Patient 2Reported in Gregor et al 1
Deletion position (Mb)67.1–68.267.3–68.967.4–67.7
GenderFemaleFemaleFemale
InheritanceDe novoDe novoDe novo
Gestational age39 weeks39 weeks40 weeks
Birth weight, g (SD)2515 (−1.2)2490 (−1.3)2900 (−0.3)
Birth length cm, (SD)47.0 (−0.67)45.0 (−1.62)49 (−0.3)
Birth OFC, cm (SD)31 (−1.6)31 (−1.6)ND
Age on last investigation4 years 2 months6 years 5 months (3 years 1 month*)15 years
Last weight, SD−2.3−0.9 (−2.6*)−1.7
Last length, SD−3.2−1.4 (−3.5*)−1.9
Last OFC, SD−2.8−1.3 (−2.1*)−0.8
Dysmorphic features+++
Feeding difficulties+++
Muscular hypotonia++
Developmental delayModerateMild–moderateModerate
Meaningful words>4 years 2 months1 year 9 months2 years
Walking alone>4 years 2 months1 year 11 months30 months
Behavioural anomaliesAutisticAutisticSleeping disturbances, autistic, temper tantrums
Brain anomaliesDilated left ventricle
Other anomaliesNail dysplasia, short fingersEpilepsy, GH deficiency, tapering fingersHypertrichosis, sandal gaps, broad first toe
  • *Before GH therapy.

  • GH, growth hormone; ND, no data; OFC, occipitofrontal circumference.