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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.
- Source :
-
Ginekologia polska [Ginekol Pol] 2014 Jul; Vol. 85 (7), pp. 541-4. - Publication Year :
- 2014
-
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.
Details
- Language :
- English
- ISSN :
- 0017-0011
- Volume :
- 85
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Ginekologia polska
- Publication Type :
- Academic Journal
- Accession number :
- 25118508
- Full Text :
- https://doi.org/10.17772/gp/1768