Distal trisomy 17q

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Abstract
A 3 yr old, male patient with trisomy 17q23qter due to a paternal t(5;17)(p151;q231) is compared to 3 other patients reported in the literature who are trisomic for the same segment due to a familial t(17;21)(q23;q22). The features common to the 4 patients are: profound mental retardation; dwarfism; frontal bossing and temporal retraction; narrow, squinty eyes, thin lips with overlapping of the lower lip by the upper lip; very low set and abnormal ears; cleft palate; and hyperlaxity of the ligaments. These symptoms may delineate a new cytogenetic syndrome.

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