PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH
GENETIC COUNSELING, cilt.26, sa.3, ss.299-305, 2015 (SCI-Expanded)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 26 Sayı: 3
- Basım Tarihi: 2015
- Dergi Adı: GENETIC COUNSELING
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.299-305
- Anahtar Kelimeler: Supernumerary marker chromosome, Chromosome 16, Prenatal diagnosis, Genetic counseling, MOLECULAR CYTOGENETIC CHARACTERIZATION, COMPARATIVE GENOMIC HYBRIDIZATION, REARRANGEMENTS
- Akdeniz Üniversitesi Adresli: Evet
Özet
Prenatal diagnosis of de novo supernumerary marker chromosome originated from chromosome 16 by array-CGH: 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 anmiocytes. 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.