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Article
Open AccessRecommendations for clinical interpretation of variants found in non-coding regions of the genome
The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease is, however...
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Article
Open AccessA hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report
Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy...
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Article
Open AccessEfficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data
Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb....
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Article
Open AccessCHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 prot...
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Article
Open AccessNRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders
Microdeletions in the NRXN1 gene have been associated with a range of neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, intellectual disability, speech and language delay, epile...
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Article
Open AccessArray CGH as a first line diagnostic test in place of karyoty** for postnatal referrals - results from four years’ clinical application for over 8,700 patients
Array CGH is widely used in cytogenetics centres for postnatal constitutional genome analysis, and is now recommended as a first line test in place of G-banded chromosome analysis. At our centre, first line te...
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Article
Open AccessMLPA for confirmation of array CGH results and determination of inheritance
Array CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of p...
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Article
Open AccessValidation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyoty** for genome imbalance
Several studies have demonstrated that array comparative genomic hybridisation (CGH) for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyot...
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Article
Open AccessA novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report
Proximal 22q is rich in low copy repeats (LCRs) which mediate non-allelic homologous recombination and give rise to deletions and duplications of varying size depending on which LCRs are involved.
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Article
Open AccessSubmicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis
Microdeletion syndromes are generally identified because they usually give rise to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs. The phenotypes associated with subtel...
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Article
Open AccessDetection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre
Commercial MLPA kits (MRC-Holland) are available for detecting imbalance at the subtelomere regions of chromosomes; each kit consists of one probe for each subtelomere.
