Table 1

Clinical features of Down syndrome in patients with partial trisomy of chromosome 21q22-qter

Phenotypic featuresCases
DL1-150SOLt(15;21)Present case
Short stature?+/−+++
Mental retardation?+++
Oblique eye fissures++++
Epicanthic folds++++
Brushfield spots+
Flat nasal bridge+++
Flat face?+++
Open mouth?++-
High arched palate?+++
Furrowed tongue?
Malpositioned ears?++
Small, dysmorphic ears++++
Short neck+++
Short and broad hands++++
Clinodactyly 5th finger++++
Transverse palmar crease+
Abnormal dermatoglyphics+?+
Congenital heart defect+
Other visceral anomalies
  • +, presence of the feature.

  • −, absence of the feature.

  • ?, unknown.

  • 1-150 Delabar et al,6 Korenberget al,7 Nadalet al.14