Hippocampal Malrotation is Associated with Chromosome 22q11.2 Microdeletion
نویسندگان
چکیده
منابع مشابه
Chromosome 15q24 microdeletion syndrome
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...
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The importance of the hippocampus, in epileptic networks, which underpin temporal lobe epilepsy, have long been appreciated. Advances in MR imaging has facilitated the identification of structural lesions in the hippocampus. In the past few years, hippocampal malrotation or incomplete inversion of the hippocampus is increasingly reported in patients with and without epilepsy and the clinical si...
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Human chromosome 16p11.2 microdeletion is the most common gene copy number variation in autism, but the synaptic pathophysiology caused by this mutation is largely unknown. Here we show using a mouse with the same genetic deficiency that metabotropic glutamate receptor 5(mGluR5-) dependent synaptic plasticity and protein synthesis is altered in the hippocampus, and that hippocampus-dependent me...
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background: the sperm count and function may be affected by karyotype abnormalities or microdeletion in y chromosome. these genetic abnormalities can probably transmit to the children. objective: in this study, we tried to determine the frequency of karyotype abnormalities and y chromosome microdeletions in severe oligospermic or azoospermic men who fathered sons by icsi. materials and methods:...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2013
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100014876