title: Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report.
abstract: Craniosynostosis (a premature fusion of the cranial sutures) occurs with a frequency of 1 in 2100-2500 births and in over 40% cases is caused by known genetic factors--either single gene mutations or chromosomal rearrangements. Cases caused by complex chromosomal abnormalities are uncommon and likely associated with compound phenotype. Saethre-Chotzen syndrome (SCS) [#101400] is caused by TWIST1 gene haploinsufficiency. Its phenotype includes uni- or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet. Due to its poor sonographic manifestation a prenatal diagnosis of SCS is challenging. We report a case of a prenatally detected craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene.
authors.forename: Diana
authors.initials: D
authors.lastname: Massalska
authors.forename: Julia
authors.initials: J
authors.lastname: Bijok
authors.forename: Anna
authors.initials: A
authors.lastname: Kucińska-Chahwan
authors.forename: Aleksander
authors.initials: A
authors.lastname: Jamsheer
authors.forename: Joanna
authors.initials: J
authors.lastname: Bogdanowicz
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Jakiel
authors.forename: Tomasz
authors.initials: T
authors.lastname: Roszkowski
mesh_terms: D059786:Abnormal Karyotype; D000328:Adult; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D051879:Twist-Related Protein 1 / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1