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Updated: May 30, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
A rare case of monosomy 18p: translocation between chromosomes 18 and 21
1Department of Medical Genetics, Dr. Sami Ulus Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
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).
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