A rare case of monosomy 18p: translocation between chromosomes 18 and 21 |
| |
Authors: | Tos T Karaman A Aycan Z Tükün A |
| |
Institution: | Department 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). |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|