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

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 likel...

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Bibliographic Details
Published in:Ginekologia polska 2014-01, Vol.85 (7), p.541-544
Main Authors: Massalska, Diana, Bijok, Julia, Kucińska-Chahwan, Anna, Jamsheer, Aleksander, Bogdanowicz, Joanna, Jakiel, Grzegorz, Roszkowski, Tomasz
Format: Article
Language:English
Subjects:
Abnormal Karyotype
Adult
Case reports
Chromosome Aberrations
Chromosomes, Human, Pair 7
Craniosynostoses - diagnosis
Craniosynostoses - genetics
Female
Gene Deletion
Genotype & phenotype
Humans
Karyotyping
Male
Nuclear Proteins - genetics
Phenotype
Pregnancy
Prenatal Diagnosis
Twist-Related Protein 1 - genetics
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Summary: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.
ISSN:0017-0011
0017-0011
2543-6767
DOI:10.17772/gp/1768