تقرير
Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
| العنوان: | Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature? |
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| المؤلفون: | Fernández Hernández L; Molecular Biology Laboratory, National Pediatric Institute, Mexico City, Mexico, dralilianafernandez@gmail.com., Alcántara Ortigoza MA; Molecular Biology Laboratory, National Pediatric Institute, Mexico City, Mexico., Ramos Angeles SE; Cytogenetic Laboratory, National Pediatric Institute, Mexico City, Mexico., González-Del Angel A; Molecular Biology Laboratory, National Pediatric Institute, Mexico City, Mexico. |
| المصدر: | Cytogenetic and genome research [Cytogenet Genome Res] 2021; Vol. 161 (12), pp. 556-563. Date of Electronic Publication: 2022 Jan 12. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel ; New York : S. Karger, c2002- |
| مواضيع طبية MeSH: | Chromosome Deletion*, Abnormalities, Multiple/*genetics , Chromosomes, Human, Pair 5/*genetics , Cleft Lip/*genetics , Cleft Palate/*genetics, Child ; Epilepsy/congenital ; Epilepsy/genetics ; Female ; Humans ; Intellectual Disability/genetics ; MEF2 Transcription Factors ; Syndrome |
| مستخلص: | 5q14.3 deletion syndrome (MIM#613443) is an uncommon but well-known syndrome characterized by intellectual disability, epilepsy, hypotonia, brain malformations, and facial dysmorphism. Most patients with this syndrome have lost one copy of the MEF2C gene (MIM*600662), whose haploinsufficiency is considered to be responsible for the distinctive phenotype. To date, nearly 40 cases have been reported; the deletion size and clinical spectrum are variable, and at least 6 cases without MEF2C involvement have been documented. We herein report the clinical and cytogenomic findings of an 11-year-old girl who has a 5q14.3q21.1 de novo deletion that does not involve MEF2C but shares the clinical features described in other reported patients. Moreover, she additionally presents with bilateral cleft-lip palate (CLP), which has not been previously reported as a feature of the syndrome. The most frequent syndromic forms of CLP were ruled out in our patient mainly by clinical examination, and Sanger sequencing was performed to discard the presence of a TBX22 gene (MIM*300307) defect. Our report suggests CLP as a possible unreported feature and redefines the critical phenotypic regions of 5q14.3 deletion syndrome. (© 2022 S. Karger AG, Basel.) |
| فهرسة مساهمة: | Keywords: 5q14.3q21.1 deletion; Bilateral cleft-lip palate; MEF2C gene |
| المشرفين على المادة: | 0 (MEF2 Transcription Factors) 0 (MEF2C protein, human) |
| تواريخ الأحداث: | Date Created: 20220112 Date Completed: 20220303 Latest Revision: 20220303 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1159/000521225 |
| PMID: | 35021179 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1424-859X |
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| DOI: | 10.1159/000521225 |