Neuropsychiatric disturbances in a patient with a nonmosaic isodicentric (X) (q21.32) chromosome.
A 41-year-old female patient with mental retardation and generalized epileptic seizure had a nonmosaic idic (X) (pter-q21.32::q21.32-pter) chromosome in peripheral lymphocytes and bone marrow cells. Primary amenorrhea, myelodysplastic syndrome, pigmented nevi and characteristic facial appearance were also observed. A few cases with the nonmosaic idic (X) (q::q) with various breakpoints reported previously commonly showed ovarian failure with dysfunction of relevant hormone. CNS abnormalities of the present case were demonstrated by CT, MRI and SPECT using 123I-IMP. CNS abnormalities were considered to be possibly due to karyotype with a nonmosaic idic (X) (q21.32).
Suzuki
T
T
Department of Psychiatry, University of Tsukuba, Japan.
Koizumi
J
J
Arinami
T
T
Shiraishi
H
H
Ofuku
K
K
Kawai
N
N
Baba
A
A
Ninomiya
H
H
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D001284:Atrophy / Q000235:genetics; D002540:Cerebral Cortex / Q000473:pathology; D004828:Epilepsies, Partial / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009190:Myelodysplastic Syndromes / Q000235:genetics; D019965:Neurocognitive Disorders / Q000235:genetics*; D009508:Nevus, Pigmented / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics; D014960:X Chromosome