Partial 6p trisomy with abnormal ABR and hypogenesis of the corpus callosum.
A case of 4-month-old male infant with the karyotype 46,XY, -21, +der(21), t(6;21)(p22; p13) mat is reported. His cranial magnetic resonance imaging (MRI) suggested hypoplastic corpus callosum and auditory brain stem response (ABR) revealed brain stem dysfunction.
Nakajima
W
W
Department of Pediatrics, Yuri Noukyou General Hospital, Honjou, Japan.
Sakemi
K
K
Komatsu
K
K
Okamura
T
T
D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology*; D016057:Evoked Potentials, Auditory, Brain Stem; D005911:Gliosis / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013997:Time Factors; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*