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Prenatal Diagnosis of de Novo Supernumerary Marker Chromosome Originated from Chromosome 16 by Array-Cgh

Yakut, S.; Cetin, Z.; Sanhal, C.; Karauzum, S.B.; Karaman, B.; Simsek, M.

Genetic Counseling 26(3): 299-305

2015

ISSN/ISBN: 1015-8146
PMID: 26625660
Document Number: 680196
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.

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