title: A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement.
abstract: Complex chromosomal rearrangements are very rare chromosomal abnormalities. Individuals with a complex chromosomal rearrangement can be phenotypically normal or display a clinical abnormality. It is believed that these abnormalities are due to either microdeletions or microduplications at the translocation breakpoints or as a result of disruption of the genes located in the breakpoints. In this study we describe a 2-year-old child with mental retardation and developmental delay in whom a de novo apparently balanced exceptional complex chromosomal rearrangement was found through conventional cytogenetic analysis. Using both cytogenetic and FISH analysis, the patient's karyotype was found to be: 46,XY,der(5)t(5;7)(p15.1;7q34),t(5;8)(q13.1;8q24.1)dn. A large, clinically significant deletion which encompassed 887.69kb was detected at the 5q12.1-5q12.3 (chr5:62.886.523-63.774.210) genomic region using array-CGH. This deleted region includes the HTR1A and RNF180 genes. This is the first report of an individual with an apparently balanced complex chromosomal rearrangement in conjunction with a microdeletion at 5q12.1-5q12.3 in which there are both mental-motor retardation and dysmorphia.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Cetin
authors.forename: Sezin
authors.initials: S
authors.lastname: Yakut
authors.forename: Ozden Altiok
authors.initials: OA
authors.lastname: Clark
authors.forename: Ercan
authors.initials: E
authors.lastname: Mihci
authors.forename: Sibel
authors.initials: S
authors.lastname: Berker
authors.forename: Guven
authors.initials: G
authors.lastname: Luleci
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities / Q000235:genetics; D005500:Follow-Up Studies; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic