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Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE)

✍ Scribed by Sandra Mercier; Christèle Dubourg; Marion Belleguic; Laurent Pasquier; Philippe Loget; Josette Lucas; Claude Bendavid; Sylvie Odent

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
135 KB
Volume
154C
Category
Article
ISSN
1552-4868

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Alobar holoprosencephaly (HPE) was identi®ed by ultrasonography at 18 weeks' gestation in a fetus of a 29-year-old G2P0A1 woman. HPE has been described in association with various chromosomal anomalies. Amniocentesis was performed and a rearrangement of chromosome 18 resembling an isochromosome for