The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case.

@article{Tapia2010TheVP,
  title={The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case.},
  author={A J L Brambila Tapia and L{\'i}dia Figuera and Norma Alejandra V{\'a}zquez C{\'a}rdenas and V Ram{\'i}rez Torres and A I V{\'a}zquez Vel{\'a}zquez and C Garc{\'i}a Contreras and Mar{\'i}a de Lourdes Ram{\'i}rez Due{\~n}as},
  journal={Genetic counseling},
  year={2010},
  volume={21 3},
  pages={277-83}
}
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 generalized spasticity, arched eyebrows, horizontal palpebral fissures with unilateral… CONTINUE READING