A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.

@article{Brown2014ACF,
  title={A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.},
  author={Lindsay A. Brown and Rosemarie Rupps and Mar{\'i}a Serena Pe{\~n}aherrera and Wendy P. Robinson and Millan S Patel and Patrice Eydoux and Cornelius F. Boerkoel},
  journal={American journal of medical genetics. Part A},
  year={2014},
  volume={164A 6},
  pages={1587-94}
}
Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. Both hypomethylation of the telomeric imprinting control region 1 (ICR1) at 11p15.5 and maternal duplication of 11p15.5 have been implicated in the etiology of this disorder. Here we report the origin and segregation of the first reported between-arm intrachromosomal insertion of 11p15.5 that encompasses both ICR1 and ICR2 in a… CONTINUE READING