DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATING FROM CHROMOSOME 17 RESULTING IN A NORMAL PREGNANCY OUTCOME

Yakut S., Cetin Z., Berker-Karauzum S., MIHÇI E., MENDİLCİOĞLU İ. İ., Luleci G.

GENETIC COUNSELING, cilt.22, sa.1, ss.63-68, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 1
  • Basım Tarihi: 2011
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.63-68
  • Anahtar Kelimeler: Supernumerary marker chromosome, Chromosome 17, Prenatal Diagnosis, Genetic counseling, PRENATAL SAMPLES, DELINEATION, PHENOTYPE
  • Akdeniz Üniversitesi Adresli: Evet

Özet

De novo supernumerary marker chromosome originating from chromosome 17 resulting in a normal pregnancy outcome: We report here a prenatal case with de novo supernumerary marker chromosome originating from chromosome 17 in non-mosaic form resulting in normal pregnancy outcome. In this case, a 26-year-old pregnant woman was referred for amniocenthesis and microdeletion Fluorescence In Situ Hybridization (FISH) testing at 18 weeks of gestation due to history of a previous child with Angelman Syndrome. PWS/AS region deletion was excluded by FISH. A de novo supernumerary, non-satellited, monocentric marker chromosome was detected during conventional cytogenetic analysis. With the use of FISH testing, it was found that the marker chromosome originated from chromosome 17. Additionally, the marker chromosome was found not to contain the Smith-Magenis and Miller Dieker syndrome regions. After detailed review of the literature, genetic counseling was given to the family, and the family decided to continue the pregnancy to term. A female child was born at term without any phenotypical abnormalities and clinical complications. Follow-up at 15 months-of-age revealed no developmental abnormalities. To our knowledge, our patient is the first reported prenatal case with a de novo monocentric, supernumerary marker chromosome derived from chromosome 17 in a non-mosaic form that resulting in normal pregnancy outcome.