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Chromosomal phenotypes and submicroscopic abnormalities

Published in: Human genomics

Date of publication: January 1, 2004

Main subject: genetic variation, cell, phenotype

Bibliographic databases:

Cites articles 76

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Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region
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Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
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Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome
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LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

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7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
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Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
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Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances,Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
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A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8

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Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
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Sex-dependent rearrangements resulting in CMT1A and HNPP.

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High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

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Behavioral phenotype of smith-magenis syndrome (del 17p11.2)
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High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions
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Minimal sizes of deletions detected by comparative genomic hybridization
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Subtle chromosomal rearrangements in children with unexplained mental retardation
June 1, 1999

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
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Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
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High rates of schizophrenia in adults with velo-cardio-facial syndrome
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22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes
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Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions
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Williams syndrome: from genotype through to the cognitive phenotype

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