Premium
Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome
Author(s) -
Pallotta R.,
Fusilli P.,
Ehresmann T.,
Cinti R.,
Verrotti A.,
Morgese G.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02398.x
Subject(s) - supernumerary , autopsy , anatomy , medicine , midline shift , pathology , computed tomography , radiology
We describe a girl with midline defects and distal limb anomalies, who had a supernumerary der(22) syndrome. The presence of some anomalies identifying the midline defects, led us to review all patients reported up to now, with interesting results. We point out the particular finding of midline defects in CNS only, in patients studied by autopsy or neuroradiologic imaging.