| Autor: |
Massalska D, Bijok J, Kucińska-Chahwan A, Jamsheer A, Bogdanowicz J, Jakiel G, Roszkowski T |
| Jazyk: |
angličtina |
| Zdroj: |
Ginekologia polska [Ginekol Pol] 2014 Jul; Vol. 85 (7), pp. 541-4. |
| DOI: |
10.17772/gp/1768 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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