Table 3

Phenotypic features of the patients with different chromosome 21 aneuploidies. (Proband CGM-14 has not been included as his phenotypic clinical traits do not coincide with those considered in Jackson’s list: see text)

SGHEJLACREVCNMRCGM-10SPG
Short stature++++++NA
Mental retardation+++/−+++
BrachycephalyNANA+NA++
Microcephaly++NA
Upward slanting palpebral fissures+++++
Downward slanting palpebral fissures+
Epicanthic folds++++++
Brushfield spots++NANA
Flat nasal bridge+++++
Flat face+NA+++NA
Open mouth++++NA
High arched palate+++NA+
Furrowed tongue++NA
Malpositioned ears+NA+++
Small, dysmorphic ears+NA+++NA
Short neck+++++NA
Short and broad hands+++++NA
Clinodactyly of 5th finger+++++NA
Tranverse palmar crease+++
Abnormal dermatoglyphics++NANA+
Hypotonia+++++
Congenital heart defect+++NALight heart defect
Other visceral anomalies++NANAHypospadias
  • +: presence, −: absence, NA: not available.