Irish Child Health Database - Peer Reviewed Papers
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Chromosome Deletion
Your search returns 12 documents
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This study examined the incidence of 3'CBFbeta deletion in acute myeloid leukemia
Abstract:
Recent reports have shown that concomitant submicroscopic deletions can occur in association with chromosomal translocations/inversions in several leukemia subtypes. Detectable by fluorescence in situ hybridization (FISH), these losses of sequence include deletion of the 5' region of the ABL gene and the 3' region of BCR in chronic myeloid leukemia (CML) and acute lymphoblastic leukemia more...
International Classification:
Neoplasms - Malignant neoplasms - leukemia
Categories:
acute myeloid leukemia
Geography:
Republic of Ireland
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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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
Abstract:
BACKGROUND: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. METHOD: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm. It is possible that the Y chromosomal more...
International Classification:
Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - Report
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
J Atten Disord,
Vol: 12 Page: 103-5 July 2008
A. Mulligan; M. Gill; M. Fitzgerald
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This article discusses Velo-Cardio-facial syndrome and its association with psychiatric disorders
Abstract:
BACKGROUND: Velo-cardio-facial syndrome (VCFS), the most frequent known interstitial deletion identified in man, is associated with chromosomal microdeletions in the q11 band of chromosome 22. Individuals with VCFS are reported to have a characteristic behavioural phenotype with high rates of behavioural, psychiatric, neuropsychological and linguistic disorders. METHODS: A selective more...
Geography:
Republic of Ireland
J Child Psychol Psychiatry,
Vol: 46 Page: 563-71 June 2005
K. C. Murphy
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This case report discusses a case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome.
Abstract:
A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should not be assumed to be an isolated malformation and that a careful search for associated malformations can facilitate the recognition of an underlying genetic syndrome. more...
International Classification:
Syndrome
Categories:
Jacobsen syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 16 Page: 177-9 July 2007
P. Foley; F. McAuliffe; M. Mullarkey; W. Reardon
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The aim of this study was to examine if gains of chromosomal regions 7q and 11p are important abnormalities in neuroblastoma
Abstract:
Neuroblastoma exhibiting deletion of a segment of the long arm of chromosome 11 represents a genetic subtype of tumor that is distinct from those exhibiting MYCN amplification or 1p deletion. The 11q- genetic subtype is further characterized by gain of 17q and loss of distal 3p material. Gain of 11p material has also been reported in neuroblastoma with 11q loss, but at a considerably more...
International Classification:
Neoplasms - Malignant neoplasms - neuroblastoma
Categories:
neuroblastoma
Geography:
Republic of Ireland
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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This case report discusses a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling
Abstract:
Terminal deletion of chromosome 4q is a genetic abnormality associated predominantly with cardiac abnormalities, abnormal facial features, and developmental delay. A specific clinical clue to this infrequently diagnosed disorder is hypoplasia of the terminal phalanx of the fifth finger with an abnormal nail, occasionally extending onto the volar surface. Ocular manifestations of the more...
International Classification:
Diseases of the eye and adnexa - Report
Categories:
asymptomatic bilateral disk swelling
Geography:
Republic of Ireland
J Aapos,
Vol: 11 Page: 516-8 October 2007
P. Connell; D. Brosnahan; A. Dunlop; W. Reardon
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This article discusses candidate genes and the behavioural phenotype in 22q11.2 deletion syndrome and the association with schizophrenia
Abstract:
There is an overwhelming evidence that children and adults with 22q11.2 deletion syndrome (22q11.2DS) have a characteristic behavioral phenotype. In particular, there is a growing body of evidence that indicates an unequivocal association between 22q11.2DS and schizophrenia, especially in adulthood. Deletion of 22q11.2 is the third highest risk for the development of schizophrenia, with more...
Geography:
Republic of Ireland
Dev Disabil Res Rev,
Vol: 14 Page: 26-34 2008
S. E. Prasad; S. Howley; K. C. Murphy
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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
Abstract:
Neuroblastoma, the most common extracranial solid tumor of childhood, is associated with a number of genetic abnormalities that are prognostically significant. The most common abnormalities are associated with aggressive clinical behavior and include deletion of distal chromosome 1p, NMYC amplification, and unbalanced gain of the long arm of chromosome 17. There are also other more...
International Classification:
Neoplasms - Malignant neoplasms - neuroblastoma
Categories:
neuroblastoma
Geography:
Republic of Ireland
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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This case report discusses a pair of siblings affected by Prader-Wili Syndrome
Abstract:
Prader-Willi syndrome (PWS) is a neurobehavioural disorder arising through a number of different genetic mechanisms. All involve loss of paternal gene expression from chromosome 15q11q13. Although the majority of cases of PWS are sporadic, precise elucidation of the causative genetic mechanism is essential for accurate genetic counselling as the recurrence risk varies according to the more...
International Classification:
Syndrome
Categories:
Prader-Wili Syndrome
Geography:
Republic of Ireland
Clin Genet,
Vol: 58 Page: 216-23 September 2000
M. E. McEntagart; T. Webb; C. Hardy; M. D. King
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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
Abstract:
Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some more...
International Classification:
Syndrome
Categories:
Langer-giedion syndrome
Geography:
Republic of Ireland
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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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
Abstract:
A number of distinct subtypes of neuroblastoma exist with different genetic abnormalities that are predicative of outcome. Whole chromosome gains are usually associated with low stage disease and favourable outcome, whereas loss of 1p, 3p and 11q, unbalanced gain of 17q and MYCN amplification (MNA) are indicative of high stage disease and unfavourable prognosis. Although MNA and loss of more...
International Classification:
Neoplasms - Malignant neoplasms - neuroblastoma
Categories:
neuroblastic tumours
Geography:
Republic of Ireland
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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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
Abstract:
Congenital pseudoarthrosis of the clavicle (CPC) has been described in several genetic conditions including Floating-Harbor and Goltz syndromes, but rarely as a prompt to specific cytogenetic abnormalities. We report on 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 more...
International Classification:
Diseases of the musculoskeletal system and connective tissue - Report
Categories:
pseudoarthrosis
Geography:
Republic of Ireland
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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