Genetic counseling (Geneva, Switzerland), vol.26, no.3, pp.299-305, 2015 (SCI-Expanded)
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.