Abstract
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 language | English |
|---|---|
| Pages (from-to) | 2101-2104 |
| Number of pages | 4 |
| Journal | Child's Nervous System |
| Volume | 29 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - 2013 Nov 1 |
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Keywords
- Array comparative genomic hybridization
- Microdeletion
- Saethre-Chotzen syndrome
- TWIST
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
Cite this
Saethre-Chotzen syndrome with an atypical phenotype : Identification of TWIST microdeletion by array CGH. / Cho, Eunhe; Yang, Tae Hwan; Shin, Eun Sim; Byeon, Jung Hye; Kim, Gun Ha; Eun, Baik-Lin.
In: Child's Nervous System, Vol. 29, No. 11, 01.11.2013, p. 2101-2104.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Saethre-Chotzen syndrome with an atypical phenotype
T2 - Identification of TWIST microdeletion by array CGH
AU - Cho, Eunhe
AU - Yang, Tae Hwan
AU - Shin, Eun Sim
AU - Byeon, Jung Hye
AU - Kim, Gun Ha
AU - Eun, Baik-Lin
PY - 2013/11/1
Y1 - 2013/11/1
N2 - 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.
AB - 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.
KW - Array comparative genomic hybridization
KW - Microdeletion
KW - Saethre-Chotzen syndrome
KW - TWIST
UR - http://www.scopus.com/inward/record.url?scp=84888201157&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84888201157&partnerID=8YFLogxK
U2 - 10.1007/s00381-013-2235-0
DO - 10.1007/s00381-013-2235-0
M3 - Article
C2 - 23958897
AN - SCOPUS:84888201157
VL - 29
SP - 2101
EP - 2104
JO - Child's Nervous System
JF - Child's Nervous System
SN - 0256-7040
IS - 11
ER -