A RARE CASE OF MONOSOMY 18p: TRANSLOCATION BETWEEN CHROMOSOMES 18 AND 21

作者：Tos T; Karaman A^*; Aycan Z; Tukun A

来源：Genetic Counseling, 2011, 22(2): 227-231.

• Monosomy 18p
• t(18
• 21)
• Hypotonia

A rare case of monosomy 18p: Translocation between chromosomes 18 and 21: 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).

• 出版日期2011