Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-7-20
pubmed:abstractText
Band 11q23 is known to be involved in translocations and insertions with a variety of partner chromosomes. These lead to MLL rearrangement, resulting in a fusion with numerous genes. We report here the case of a 5-month-old boy presenting with hemianopsia and severe diffuse intravascular coagulopathy in whom a diagnosis of acute myeloblastic leukemia (AML) French-American-British M4 classification was made. Conventional cytogenetic techniques showed an ins(11;X) (q23;q28q12). Fluorescent in situ hybridization (FISH) with whole chromosome paints confirmed this finding. Using a specific probe, the MLL gene was found to be disrupted, a portion of the X chromosome being inserted between the 5' and 3' regions of the MLL gene. Although some cases of insertion involving chromosomes X and 11 have been reported in AML, this appears to be the first case involving band Xq28. We postulate that this chromosomal rearrangement led to the fusion of the 5' region of the MLL gene with a yet unidentified gene located in band Xq28.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0165-4608
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
152
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
149-52
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
X chromosome insertion in the MLL gene in a case of childhood acute myeloblastic leukemia.
pubmed:affiliation
Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France.
pubmed:publicationType
Journal Article, Case Reports