title: Acute monocytic leukemia and multiple abnormalities in a child with duplication of 1q detected by GTG-banding and SKY.
abstract: Patients with 1q duplication have demonstrated a wide range of multiple congenital abnormalities. Alterations involving this chromosomal region have being described in hematopoietic malignancies and a series of candidate genes that may be associated with neoplasias have been mapped in this region. We describe a case of partial trisomy 1q "syndrome" and acute monocytic leukemia. Cytogenetic study of the bone marrow cells by GTG-banding and spectral karyotyping (SKY) showed dup(1)(q23q44) in all cells analyzed. The dismorphological features with the dup(1q) suggest a constitutional chromosome alteration and the first, in our knowledge, association of a trisomy 1q "syndrome" with AML.
authors.affiliation: Department of Pediatrics, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Ribeirao Preto, Brazil. cascrideli@hcrp.fmrp.usp.br
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Scrideli
authors.forename: Marcelo R
authors.initials: MR
authors.lastname: Baruffi
authors.forename: Jeremy A
authors.initials: JA
authors.lastname: Squire
authors.forename: Ester S
authors.initials: ES
authors.lastname: Ramos
authors.forename: Jana
authors.initials: J
authors.lastname: Karaskova
authors.forename: Benjamin
authors.initials: B
authors.lastname: Heck
authors.forename: Luiz G
authors.initials: LG
authors.lastname: Tone
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002871:Chromosome Banding / Q000379:methods; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D007223:Infant; D007948:Leukemia, Monocytic, Acute / Q000235:genetics* / Q000473:pathology; D032681:Spectral Karyotyping; D014314:Trisomy