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Further studies on a male monozygotic triplet with schizophrenia: cytogenetical and neurobiological assessments in the patients and their parents.

作者信息

Jönsson E G, Härnryd C, Johannesson T, Wahlström J, Bergenius J, Bergstedt H, Greitz D, Nyman H, Björck E, Blennow E, Sedvall G C

机构信息

Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.

出版信息

Eur Arch Psychiatry Clin Neurosci. 1997;247(5):239-47. doi: 10.1007/BF02900301.

DOI:10.1007/BF02900301
PMID:9444492
Abstract

We previously described a Swedish set of male schizophrenic monozygotic triplets. In this study the patients as well as their parents were further characterized. By high-resolution chromosomal analysis an extra band at chromosome 15p was found in all the triplets and the father. Microdissection, degenerate oligonucleotide-primed PCR (DOP-PCR) amplification and reverse painting indicates that the extra band probably contains only repetitive DNA sequences with no known effect on the phenotype. Magnetic resonance imaging (MRI) showed similar borderline ventricular enlargement and widened subarachnoid spaces over frontoparietal and basal regions as well as around the pituitary gland (empty sella) in all the triplets. The father also had widened subarachnoid spaces over the frontal and basal regions. The mother had an empty sella indicating widened subarachnoid spaces. All the boys also had a right-sided conductive hearing defect, probably due to malformation and fixation of the ossicular chain. The parents did not present any otological abnormalities. Neuropsychological assessment demonstrated similar marked reductions of attentional, mnestic, and executive functions in all the triplets, but the mother showed a normal pattern. Possible joint etiological mechanisms for the psychological and somatic abnormalities recorded in the triplets are discussed.

摘要

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本文引用的文献

1
Ventricular enlargement associated with linkage marker for schizophrenia-related disorders in one pedigree.一个家系中与精神分裂症相关疾病连锁标记物相关的脑室扩大。
Mol Psychiatry. 1996 Jul;1(3):215-22.
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Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.源自10号染色体短臂的小额外环状染色体:临床报告及荧光原位杂交表征
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