title: Complex chromosomal rearrangements associated with congenital erythrophagocytotic histiocytosis.
abstract: We describe a patient with a congenital malignant blood disorder and a constitutional de novo chromosomal rearrangement that includes four breakpoints. By conventional cytogenetic analysis an obviously reciprocal balanced translocation with the breakpoints 1p36 and 5q11.2 was diagnosed. Due to a suspicious dark band in the breakpoint area of 1p a more detailed analysis of the breakpoints was performed using microdissection and reverse chromosome painting. This revealed a small inversion at 1p36 that must have occurred prior to the reciprocal translocation. The three breakpoints in chromosome 1 (1p36.11, 1p36.21 and 1p36.31) are within or close by regions known to contain tumor suppressor genes. The chromosomal rearrangement might have resulted either in a submicroscopic deletion, in loss of heterozygosity of one or more imprinted genes, or in gene position effects as possible explanations for the clinical course of our patient.
authors.affiliation: Department of Pediatric Hematology and Oncology, Heinrich-Heine University Düsseldorf, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Edelhoff
authors.forename: C
authors.initials: C
authors.lastname: Grond-Ginsbach
authors.forename: F
authors.initials: F
authors.lastname: von Eggeling
authors.forename: D
authors.initials: D
authors.lastname: Körholz
authors.forename: U
authors.initials: U
authors.lastname: Göbel
authors.forename: G
authors.initials: G
authors.lastname: Senger
mesh_terms: D002878:Chromosomes, Human, Pair 1; D002895:Chromosomes, Human, Pair 5; D004912:Erythrocytes; D005260:Female; D015620:Histiocytic Disorders, Malignant / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D010587:Phagocytosis; D014178:Translocation, Genetic