Article
The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2010
Brambila Tapia A J, Figuera L, Vázquez Cárdenas N A, Ramírez Torres V, Vázquez Velázquez A I, García Contreras C, Ramírez Dueñas M L
Abstract excerpt
The variable phenotype in tetrasomy 18p syndrome. Apropos of a subtle dysmorphic case: Tetrasomy 18 is a rare chromosomal syndrome. Its frequency is 1/40,000 newborns and more than 40 cases have been reported. In this paper we report a 25-month-old female patient referred for chromosome examination essentially because of delayed psychomotor development. The physical examination showed: microcephaly, mild...
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