title: PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH.
abstract: 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.
authors.forename: S
authors.initials: S
authors.lastname: Yakut
authors.forename: Z
authors.initials: Z
authors.lastname: Cetin
authors.forename: C
authors.initials: C
authors.lastname: Sanhal
authors.forename: S B
authors.initials: SB
authors.lastname: Karauzum
authors.forename: B
authors.initials: B
authors.lastname: Karaman
authors.forename: M
authors.initials: M
authors.lastname: Simsek
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis