title: Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.
abstract: Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We report here a de novo prenatal case with clinically and molecularly well defined Saethre-Chotzen syndrome due to a TWIST1 deletion. This is the first reported case of a deletion encompassing the TWIST1 gene to be diagnosed prenatally. We recommend screening for a deletion of the TWIST1 gene if signs of coronal craniosynostosis with no clear etiology are observed on ultrasound examination.
authors.affiliation: Department of Developmental Biology, AP-HP, Robert Debré Hospital, 48, Boulevard Sérurier, 75019 Paris, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Spaggiari
authors.forename: Azzedine
authors.initials: A
authors.lastname: Aboura
authors.forename: Martine
authors.initials: M
authors.lastname: Sinico
authors.forename: Philippe
authors.initials: P
authors.lastname: Mabboux
authors.forename: Céline
authors.initials: C
authors.lastname: Dupont
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
authors.forename: Fabien
authors.initials: F
authors.lastname: Guimiot
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000025:Abortion, Eugenic; D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics*; D011247:Pregnancy; D011859:Radiography; D051879:Twist-Related Protein 1 / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1