[7 cases of trisomy 2q34 leads to 2qter resulting from a familial t(2;8)(q34;23)].

Seven patients from two different families are trisomic 2q34 leads to 2qter due to segregation of a familial t(2;8)(q34;p23). The clinical features are characteristic: microcephaly, a narrow forehead with bossing and temporal retraction, hypertelorism, palpebral fissures slanted downwards, large irides, and a very concave margin of the lower eyelid. Mental retardation is severe with a mean IQ of 50.