Distal trisomy 17q.
A 3-year-old, male patient with trisomy 17q231qter due to a paternal t(5;17)(p151;q231) is compared to three 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 four 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. It thus seems possible to delineate a new cytogenetic syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D002902:Chromosomes, Human, 16-18; D002905:Chromosomes, Human, 4-5; D003878:Dermatoglyphics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy