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Measurement of locus copy number by hybridisation with amplifiable probes.
Despite its fundamental importance in genome analysis, it is only recently that systematic approaches have been developed to assess copy number at specific genetic loci, or to examine genomic DNA forExpand
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Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.
This study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic populations of Greece and Cyprus. TheExpand
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Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype
BackgroundCarriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study weExpand
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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay
Subtelomeric chromosomal abnormalities are emerging as an important cause of human genetic disorders. The scope of this investigation was to screen a selected group of children with idiopathic mentalExpand
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Effects of transmission of Y chromosome AZFc deletions
Deletions of specific regions on the Y chromosome cause male infertility. Recent advances in infertility treatment allow Y chromosome deletions to be transmitted to male offspring with the assumptionExpand
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Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy
To correlate the origin of the retained X in Turner syndrome with phenotype, pre‐treatment height and response to recombinant human growth hormone (rhGH) therapy, systematic clinical assessment andExpand
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Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability
A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with a wide spectrum of clinicalExpand
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Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature
Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated that it might also become the first-tierExpand
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Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
The 4q deletion syndrome, comprising all microscopically visible deletions (interstitial and terminal) is a well-recognized distinctive malformation entity, with an estimated incidence of 1:10,000.Expand
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