Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

摘要

To the Editor:In the November 2008 issue of the Journal, Day and colleagues have reviewed Say/Barber/ Biesecker/Young-Simpson (SBBYS) syndrome and described an emerging homogenous pattern of features shared by eight affected individuals. The clue for diagnosis of SBBYS is a distinctive gestalt associated with hypotonia, severe developmental delay, ocular and dental abnormalities, long thumbs and toes. Array-comparative genomic hybridization (a-CGH) analysis excluded in these patients a causative chromosomal aetiology at a resolution of around 100 kb (1).