Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome.
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.
Pallotta
R
R
Cattedra di Pediatria Preventiva e Sociale, Università G. D'Annunzio, Chieti, Italy.
Fusilli
P
P
Ehresmann
T
T
Cinti
R
R
Verrotti
A
A
Morgese
G
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic