Ring chromosome 9: an atypical case.
A new case of ring chromosome 9 in a 36-month-old child is presented. In addition to the pathognomonic features of this rare disorder (only 21 cases reported), our patient presents some peculiarities, such as corpus callosum hypoplasia and epileptic seizures (infantile periodic spasms). We also observed a reduced level of leukocyte interferon alpha whose synthesis is controlled by a gene on chromosome 9 and which could be responsible for the recurrent respiratory tract infections, typical and sometimes fatal in these patients.
Lanzi
G
G
Department of Child Neuropsychiatry, C. Mondino Foundation, Neurological Institute IRCCS, University of Pavia, Italy.
Fazzi
E
E
Veggiotti
P
P
Pagliano
E
E
Gariglio
M
M
Bonaglia
C
C
Landolfo
S
S
D000328:Adult; D001991:Bronchitis / Q000175:diagnosis / Q000276:immunology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D003337:Corpus Callosum / Q000473:pathology; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D007962:Leukocytes / Q000276:immunology; D008297:Male; D012008:Recurrence; D012303:Ring Chromosomes