title: A rare case of monosomy 18p: translocation between chromosomes 18 and 21.
abstract: A rare case of monosomy 18p with molecular cytogenetic characterization of 18;21 whole arm translocation is presented. An 8-year-old gril with mental deficiency and growth deficiency was the child of a 45-year-old healthy mother and 50-year-old nonconsanguineous father with unremarkable prenatal history. She had a round face, flat nasal bridge, micrognathia and hypotonia. Cytogenetic studies revealed de novo 45,XX,del(18)t(18;21) karyotype, which was confirmed by fluorescence in situ hybridization (FISH).
authors.affiliation: Department of Medical Genetics, Dr. Sami Ulus Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
authors.forename: T
authors.initials: T
authors.lastname: Tos
authors.forename: A
authors.initials: A
authors.lastname: Karaman
authors.forename: Z
authors.initials: Z
authors.lastname: Aycan
authors.forename: A
authors.initials: A
authors.lastname: Tükün
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D003582:Cytogenetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009006:Monosomy / Q000175:diagnosis*; D014178:Translocation, Genetic