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Neuropsychiatric Disturbances in a Patient with a Nonmosaic Isodicentric (X) (q21.32) Chromosome
Author(s) -
Suzuki Toshihito,
Koizumi Junzo,
Arinami Tadao,
Shiraishi Hiroyasu,
Ofuku Kojiro,
Kawai Nobuyoshi,
Baba Atsuomi,
Ninomiya Haruhiko
Publication year - 1990
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1111/j.1440-1819.1990.tb01630.x
Subject(s) - biology , amenorrhea , karyotype , breakpoint , chromosome , genetics , pregnancy , gene
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 123 I‐EVIP. CNS abnormalities were considered to be possibly due to karyotype with a nonmosaic idic (X) (q21.32).