Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.

Abstract

We present two patients, a 12 year old Turkish and a 7 year old Italian girl, with severe mental retardation, multiple congenital malformations and a constitutional interstitial deletion of the short arm of chromosome 17, del(17) (11.2). The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad… (More)

Topics

Cite this paper

@article{Fischer1993ConstitutionalID, title={Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.}, author={Hans Erhard Fischer and H. P. Oswald and Hans C Duba and L C D{\'o}czy and Burkhard Simma and Gerd Utermann and O. A. Haas}, journal={Klinische Padiatrie}, year={1993}, volume={205 3}, pages={162-6} }