Lissencephaly in 2 siblings

Miller, James Q.

doi:10.1212/wnl.13.10.841

Cited by 152 publications

(50 citation statements)

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“…The phenotype commonly includes sleep disturbances, self destructive and aggressive behaviour as well as eye, ear, genitourinary and cardiovascular anomalies, differences in the phenotype being attributed to the varying number of contiguous genes that are deleted. The second, Miller-Dieker syndrome (Miller, 1963;Dieker et al, 1969) is characterized by lissencephaly and characteristic facial features including prominent forehead, flat midface, short nose with upturned nares, protuberant upper lip and small jaw. It is associated with a visible or submicroscopic deletion of band 17p13.3.…”

Section: Discussionmentioning

confidence: 99%

Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities

Cockwell

Maloney²,

Thomas³

et al. 2005

Cytogenet Genome Res

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We report a 21-week gestation fetus terminated because of multiple congenital abnormalities seen on ultrasound scan, including ventriculomegaly, possible clefting of the hard palate, cervical hemivertebrae, micrognathia, abnormal heart, horseshoe kidney and a 2-vessel umbilical cord. On cytogenetic examination, the fetus was found to have a male karyotype with 45 chromosomes with a dicentric chromosome, which appeared to consist of the long arms of chromosomes 13 and 17. Molecular genetic investigations and fluorescence in situ hybridization (FISH) unexpectedly showed that the derivative chromosome contained two interstitial blocks of chromosome 17 short arm sequences, totalling approximately 7 Mb, between the two centromeres. This effectively made the fetus monosomic for ∼15 Mb of 17p without the concurrent trisomy for another chromosome normally seen following malsegregation of reciprocal translocations. It also illustrates the complexity involved in the formation of some structurally abnormal chromosomes, which can only be resolved by detailed molecular investigations.

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Section: Discussionmentioning

confidence: 99%

Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities

Cockwell

Maloney²,

Thomas³

et al. 2005

Cytogenet Genome Res

View full text Add to dashboard Cite

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“…In this disorder, the brain has a smooth cortical surface (lissencephaly) caused by a lack of complexity of the outer cortex, and the migration of cerebellar granule cells is disrupted [63][64][65] . The malformation of the brain results from a haploinsufficiency of the gene LIS-1 , which encodes a 45-kDa subunit of the brain PAF acetylhydrolase, an enzyme that converts PAF into the inactive lyso-PAF by removing the acetyl group on the sn2 position of the PAF molecule [66][67][68] .…”

Section: Platelet-activating Factormentioning

confidence: 99%

Cerebellar Granule Cell Migration and the Effects of Alcohol

et al. 2007

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In the developing brain the majority of neurons migrate from their birthplace to their final destination. This active movement is essential for the formation of cortical layers and nuclei. The impairment of migration does not affect the viability of neurons but often results in abnormal differentiation. The proper migration of neurons requires the orchestrated activities of multiple cellular and molecular events, such as pathway selection, the activation of specific receptors and channels, and the assembly and disassembly of cytoskeletal components. The migration of neurons is very vulnerable to exposure to environmental toxins, such as alcohol. In this article, we will focus on recent developments in the migration of cerebellar granule cells. First, we will describe when, where and how granule cells migrate through different cortical layers to reach their final destination. Second, we will present how internal programs control the sequential changes in granule cell migration. Third, we will review the roles of external guidance cues and transmembrane signals in granule cell migration. Finally, we will reveal mechanisms by which alcohol exposure impairs granule cell migration.

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“…al., 1969;Miller, 1963]. This disorder is caused by the hemideletion of LIS1 Lo Nigro et al, 1997;Reiner et al, 1993Reiner et al, , 1995, a gene encoding a 45-kDa regulatory subunit of an intracellular PAF acetylhydrolase (PAFAH1B) [Hattori et al, 1994], here referred to as PAFAHIB1.…”

Section: Introductionmentioning

confidence: 99%