Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?

Cytogenetic and Genome Research

Novel Insights from Clinical Practice

Fernández Hernández L.a· Alcántara Ortigoza M.A.Ramos Angeles S.E.b· González-del Angel A.a

Author affiliations

aMolecular Biology Laboratory, National Pediatric Institute, Mexico City, Mexico
bCytogenetic Laboratory, National Pediatric Institute, Mexico City, Mexico

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Article / Publication Details

First-Page Preview

Abstract of Novel Insights from Clinical Practice

Received: July 26, 2021
Accepted: November 29, 2021
Published online: January 12, 2022

Number of Print Pages: 8
Number of Figures: 2
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

Abstract

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.

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First-Page Preview

Abstract of Novel Insights from Clinical Practice

Received: July 26, 2021
Accepted: November 29, 2021
Published online: January 12, 2022

Number of Print Pages: 8
Number of Figures: 2
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

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