PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH

Yakut Uzuner S., Çetin Z., Sanhal C. Y., Karaüzüm S., Karaman B., Şimşek M.

Genetic Counseling, cilt.26, sa.3, ss.299-305, 2015 (SCI-Expanded)

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 26 Sayı: 3
  • Basım Tarihi: 2015
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.299-305
  • İstanbul Üniversitesi Adresli: Evet

Özet

A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry. A non-satellited, monocentric marker chromosome was observed with a frequency of 50% in cultured amniocytes. Parental karyotypes were normal. The marker chromosome was found to be derived from chromosome 16 by FISH and array-CGH analysis. Genetic counseling was given to parents and the family decided to terminate the pregnancy. Dysmorphic findings including; low set ears, exophtalmos depressed nasal bridge, large mouth and lips, posture anomalies at the extremities were detected at autopsy.