FURTHER DELINEATION OF 7P TRISOMY - CASE-REPORT AND REVIEW OF LITERATURE

The authors report on the 7th case of ''de novo'' 7p trisomy [46, XY, dup (7) (p15-pter)], followed during 6,6:12 years. Through literature review, examination of pictures and dermatoglyphics, they try to contr ibute to the further definition of this multiple congenital anomaly sy ndrome. This entity, although several lengths of duplicated fragment o r mosaicism, is characterized by high and large forehead flattened al the centre due to the abnormally large and persistent gaping anterior fontanel and sagittal (metopic sutures, consequent: hypertelorism and broad nasal bridge, cutis laxa, often denounced by folded neck, joint and cardiovascular anomalies, psychomotor delay and a possible typical dermatoglyphic pattern. The phenotipic pattern seems to be similar in all the patient, although the association of anomalies appears to be correlated to the extension of the duplicated fragments.