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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » C » Chromosome Deletion

Chromosome Deletion

Your search returns 12 documents

  • 1.   3'CBFbeta deletion associated with inv(16) in acute myeloid leukemia

    This study examined the incidence of 3'CBFbeta deletion in acute myeloid leukemia

    Cancer Genet Cytogenet, Vol: 162 Page: 122-6 October 2005
    J. Kelly; N. J. Foot; E. Conneally; H. Enright; M. Humphreys; K. Saunders; M. J. Neat

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  • 2.   A case of ADHD and a major Y chromosome abnormality

    This case report discusses a male child with attention deficit disorder with hyperactivity and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm

    J Atten Disord, Vol: 12 Page: 103-5 July 2008
    A. Mulligan; M. Gill; M. Fitzgerald

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  • 3.   Annotation: velo-cardio-facial syndrome

    This article discusses Velo-Cardio-facial syndrome and its association with psychiatric disorders

    J Child Psychol Psychiatry, Vol: 46 Page: 563-71 June 2005
    K. C. Murphy

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  • 4.   Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome)

    This case report discusses a case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome.

    Clin Dysmorphol, Vol: 16 Page: 177-9 July 2007
    P. Foley; F. McAuliffe; M. Mullarkey; W. Reardon

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  • 5.   Are gains of chromosomal regions 7q and 11p important abnormalities in neuroblastoma?

    The aim of this study was to examine if gains of chromosomal regions 7q and 11p are important abnormalities in neuroblastoma

    Cancer Genet Cytogenet, Vol: 140 Page: 133-7 January 2003
    R. L. Stallings; J. Howard; A. Dunlop; M. Mullarkey; M. McDermott; F. Breatnach; A. O'Meara

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  • 6.   Bilateral optic disk swelling in the 4q34 deletion syndrome

    This case report discusses a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling

    J Aapos, Vol: 11 Page: 516-8 October 2007
    P. Connell; D. Brosnahan; A. Dunlop; W. Reardon

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  • 7.   Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome

    This article discusses candidate genes and the behavioural phenotype in 22q11.2 deletion syndrome and the association with schizophrenia

    Dev Disabil Res Rev, Vol: 14 Page: 26-34 2008
    S. E. Prasad; S. Howley; K. C. Murphy

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  • 8.   Coordinate deletion of chromosome 3p and 11q in neuroblastoma detected by comparative genomic hybridization

    The aim of this study was to provide insight into some of the less commonly observed abnormalities in neuroblastoma, by performing comparative genomic hybridization analysis on 24 primary and metastatic neuroblastomas

    Cancer Genet Cytogenet, Vol: 120 Page: 44-9 July 2000
    C. J. Breen; A. O'Meara; M. McDermott; M. Mullarkey; R. L. Stallings

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  • 9.   Familial Prader-Willi syndrome: case report and a literature review

    This case report discusses a pair of siblings affected by Prader-Wili Syndrome

    Clin Genet, Vol: 58 Page: 216-23 September 2000
    M. E. McEntagart; T. Webb; C. Hardy; M. D. King

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  • 10.   Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion

    This case report discusses a boy with an oligo array-cgh characterised small microdeletion involving EXT1 alone but with some features of Langer-giedion syndrome suggesting a functional disturbance of TRPS1

    Am J Med Genet A, Vol: 146A Page: 1587-92 June 2008
    J. McBrien; J. A. Crolla; S. Huang; J. Kelleher; J. Gleeson; S. A. Lynch

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  • 11.   Oligonucleotide microarray analysis of gene expression in neuroblastoma displaying loss of chromosome 11q

    The aim of this study was to examine a metaphase comparative genomic hybridization analysis in combination with oligonucleotide technology to identify patterns of gene expression that correlate with genomic imbalances in primary neuroblastic tumours

    Carcinogenesis, Vol: 25 Page: 1599-609 September 2004
    L. McArdle; M. McDermott; R. Purcell; D. Grehan; A. O'Meara; F. Breatnach; D. Catchpoole; A. C. Culhane; I. Jeffery; W. M. Gallagher; R. L. Stallings

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  • 12.   Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion

    This case report discusses a case of a de novo 10p11.21p12.1 microdeletion in a boy with multiple problems including a beaten copper appearance of the cranium on skull X-ray and pseudoarthrosis of the right clavicle

    Am J Med Genet A, Vol: 146A Page: 233-7 January 2008
    R. Shahdadpuri; B. de Vries; R. Pfundt; N. de Leeuw; W. Reardon

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