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

Tos T., Karaman A., AYCAN Z., Tukun A.

GENETIC COUNSELING, cilt.22, sa.2, ss.227-231, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 2
  • Basım Tarihi: 2011
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.227-231
  • Anahtar Kelimeler: Monosomy 18p, t(18;21), Hypotonia, MOLECULAR CHARACTERIZATION, SPEECH DELAY, DYSTONIA
  • Ankara Üniversitesi Adresli: Evet

Özet

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).