Saethre-Chotzen syndrome with an atypical phenotype: Identification of TWIST microdeletion by array CGH

Eunhe Cho, Tae Hwan Yang, Eun Sim Shin, Jung Hye Byeon, Gun Ha Kim, Baik Lin Eun

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    10 Citations (Scopus)


    Saethre-Chotzen syndrome is a very rare autosomal dominant congenital disorder characterized by craniosynostosis and acrocephalosyndactyly. It is caused by a mutation in TWIST1, located on chromosome 7p21. A shortage of functional TWIST1 protein affects the development and maturation of cells in the skull, face, and limbs. The patient described in this report displayed craniofacial features classic for Saethre-Chotzen syndrome, including craniosynostosis, low-set ears, small pinna with prominent crura, a high-arched palate, and a simian crease on the left hand. He did not have the limb anomalies commonly seen in patients with Saethre-Chotzen syndrome, and the results of conventional chromosome analysis were normal. However, results of a microarray-based comparative genomic hybridization (array CGH) study confirmed the karyotype of 46,XY.7p21.1p15.3(15,957,375-20,331,837)x1, a region that includes TWIST1. Subsequent fluorescent in situ hybridization analysis confirmed this result. No other chromosome was involved in the rearrangement. This case illustrates the important contribution of array CGH to the identification of TWIST microdeletions, even in a patient not showing the phenotype typical of Saethre-Chotzen syndrome.

    Original languageEnglish
    Pages (from-to)2101-2104
    Number of pages4
    JournalChild's Nervous System
    Issue number11
    Publication statusPublished - 2013 Nov


    • Array comparative genomic hybridization
    • Microdeletion
    • Saethre-Chotzen syndrome
    • TWIST

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health
    • Clinical Neurology


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