Table 1

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

Phenotypic featuresCases
DL1-150SOL†t(15;21)‡Present case
Short stature?+/−+++
Mental retardation?+++
Microcephaly?++−
Brachycephaly?+++
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+?+−
Hypotonia?−++/−
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