Please use this identifier to cite or link to this item: http://cmuir.cmu.ac.th/jspui/handle/6653943832/75808
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dc.contributor.authorKuntharee Traisrisilpen_US
dc.contributor.authorWisit Chankhunaphasen_US
dc.contributor.authorRekwan Sittiwangkulen_US
dc.contributor.authorChureerat Phokaewen_US
dc.contributor.authorVorasuk Shotelersuken_US
dc.contributor.authorTheera Tongsongen_US
dc.date.accessioned2022-10-16T07:02:48Z-
dc.date.available2022-10-16T07:02:48Z-
dc.date.issued2021-01-01en_US
dc.identifier.issn20754418en_US
dc.identifier.other2-s2.0-85106321213en_US
dc.identifier.other10.3390/DIAGNOSTICS11030415en_US
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85106321213&origin=inwarden_US
dc.identifier.urihttp://cmuir.cmu.ac.th/jspui/handle/6653943832/75808-
dc.description.abstractCHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.en_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.titlePrenatal sonographic features of charge syndromeen_US
dc.typeJournalen_US
article.title.sourcetitleDiagnosticsen_US
article.volume11en_US
article.stream.affiliationsChulalongkorn Universityen_US
article.stream.affiliationsChiang Mai Universityen_US
Appears in Collections:CMUL: Journal Articles

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