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Miller-Dieker syndrome

Miller-Dieker Syndrome is a disease characterised by a developmental defect of the brain, caused by incomplete neuronal migration. The brain is smooth (also known as lissencephaly), has an absence of sulci and giri, has a cerebral cortex 4 layers thick instead of 6 and shows microcephaly. There is a characteristic facial appearance, retarded growth and mental development, and multiple abnormalities of the brain, heart, kidney and gastrointestinal tract. Originally thought to be an autosomal recessive disorder, it is now known to be an autosomal dominant disorder, and a haploinsufficiency of one or more genes on chromosome 17p. more...

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Failure to thrive, feeding difficulties, seizures and decreased spontaneous activity are often seen, and death tends to occur in infancy and childhood.

The disease arises the deletion of part of 17p (which includes both the LIS1 and 14-3-3 epsilon gene), leading to partial monosomy. There may be unbalanced translocations (ie 17q:17p or 12q:17p), or the presence of a ring chromosome 17. The disease may be diagnosed by cytogenetic techniques.

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Screening chromosome ends for learning disability - Editorial
Small chromosomal rearrangements may be behind idiopathic learning disability Learning disability affects about 3% of the population, yet the cause ...
PCR amplification of alleles at locus D17S5: Detection of new and rare long-length alleles by oligoprobing in a survey of Australian populations
Nongenic regions of eukaryotic genomes include head-to-tail tandemly repeating DNA sequences. These sequences generally consist of an integral number of repeats, individual members of which share som

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