1. PRENATAL DIAGNOSIS AND MOLECULAR GENETIC STUDIES ON A NEW CASE OF AGNATHIA-OTOCEPHALY.
- Author
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Kamnasaran, Deepak, Morin, Françoise, and Gekas, Jean
- Subjects
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GENETIC mutation , *PRENATAL diagnosis , *OBSTETRICAL diagnosis , *ETIOLOGY of diseases , *GENETICS - Abstract
Otocephaly is a severe and lethal malformation. We report a new case of a fetus with Agnathia-Otocephaly, presenting only the facial findings but with otherwise normal organs. The fetal karyotype was normal. We examined the fetal DNA for uniparental disomy of chromo-somes 3 and 4, since the mother is a carrier of a t(3;4) chromosome, but did not identify any evidence. We were also unable to find mutations or possible associations with candidate Otocephalic genes, including OTX2 and PGAP1. These findings suggest that the molecular etiology of Agnathia-Otocephaly is still unknown with a mutation yet to be identified in humans. [ABSTRACT FROM AUTHOR]
- Published
- 2010
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