母子保健クリニック

概要

Genetic Counselling in a Familial Deletion 18p Syndrome

Cozarua GC, Aschie M, Mitroia A, Poinareanu I, Capatinaa D

Deletion of 18p syndrome is characterized by dysmorphic features, growth deficiencies, and mental retardation with a poor verbal performance. Until now, few families have been described with limited clinical description. We report transmission of deletion 18p from a mother to his son. The proband is 8 years old and has short stature, dysmorphic features, polymorphous dyslalia and moderate mental retardation. The mother also presents dysmorphic features, mild mental retardation and has better verbal abilities than his son. Management needs to be handled by a multidisciplinary team and includes speech therapy, hormonal (if necessary) and psychological care. Genetic counselling for these patients should take into account these new data, especially in regard of a wider variability of intellectual outcomes and better verbal performance.