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.
Ginekol Pol
; 85(7): 541-4, 2014 Jul.
Article
em En
| MEDLINE
| ID: mdl-25118508
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
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Cromossomos Humanos Par 7
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Proteínas Nucleares
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Aberrações Cromossômicas
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Deleção de Genes
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Craniossinostoses
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Proteína 1 Relacionada a Twist
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
Ginekol Pol
Ano de publicação:
2014
Tipo de documento:
Article