Table 3

Comparison of clinical signs with percentages between Cohen syndrome patients and seven TNS affected Border collies.

Clinical signs

Cohen Syndrome (%)

TNS (%)


typical facies

81*

43


slender extremities

91

86


mental retardation

99

43


microcephaly

53

71


infantile hypotonia

86

71


developmental delay

81

86


delayed puberty

41

86


short stature

47

60‡


truncal obesity

65

0


neutropenia

75§

100


myopia

44

n/a


cataracts

64

n/a


n/a - not available

* average for clinical signs: short philtrum, high narrow palate, prominent nasal bridge and prominent central upper incisors

† Data summarised from Taban et al. [23] where the number of individuals for each category varies depending on what has been reported in the literature

‡ out of five dogs as two died before reaching maturity

§ data summarised from Hennies et al. [24]; Kivitie-Kallio and Norio [25]; Chandler et al. [26]; Kolehmainen et al. [15]; Bugiani et al. [27]; Kivitie-Kallio et al. [12]; and Seifert et al. [14].

Shearman and Wilton BMC Genomics 2011 12:258   doi:10.1186/1471-2164-12-258

Open Data