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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

A smaller critical genomic region is described allowing identification of candidate genes for the distinctive facial dysmorphism (microdeletions) and autism (microduplications) manifestations and is characterised.
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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

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FISH and array‐CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions

It is suggested that 3p− syndrome associated features are primarily caused by loss of CNTN4 and CRBN, with loss of CHL1 probably having an additional detrimental effect on the cognitive functioning of the present patient.
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Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

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Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

Observations confirm that haploinsufficiency due to either a simultaneous deletion of these genes or combined downregulation of gene expression due to a disruption in the region between these genes and a control element could be the cause of the syndrome.
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Cytogenetic analysis of epithelial renal‐cell tumors: Relationship with a new histopathological classification

Results of 105 primary tumors show that, in this new classification, there is a correlation between different subtypes of renal‐cell tumor and specific chromosomal abnormalities at a microscopic and/or molecular level, and these correlations support the hypothesis that specific chromosome abnormalities play a role in the histogenesis and oncogenesis of RCC.
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Central 22q11.2 deletions

The results further elucidate genotype‐phenotype correlations in 22q11.2 deletion syndrome spectrum and suggest that patients with a central deletion have a different and more severe phenotype, characterized by a higher prevalence of congenital heart anomalies, growth restriction and microcephaly.
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Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

The contribution of germline MLH1 hypermethylation and EPCAM deletions to the genetically proven Lynch syndrome cases in this cohort is very high.
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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

The identification of MYT1L as candidate gene for ID justifies further molecular studies aimed at detecting mutations and for mechanistic studies on its role in neuron development and on neuropathogenic effects of haploinsufficiency.
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Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations

Using FISH in conjunction with X‐specific YAC clones, it is demonstrated that the two new cases exhibited distinct breakpoints within Xp11.2.
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