A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4

Author(s)

Molck, Miriam Coelho ; Simioni, Milena ; Vieira, Tarsis Paiva ; Monteiro, Fabiola Paoli ; Gil-da-Silva-Lopes, Vera L.

• Document type: Journal article
• Source: MOLECULAR SYNDROMOLOGY; v. 8, n. 3, p. 161-167, 2017.
• Web of Science Citations: 0

Abstract

Deletions in the 10q22.3q23.2 region are rare and mediated by 2 low-copy repeats (LCRs 3 and 4). These deletions have already been recognized as the 10q22q23 deletion syndrome. The phenotype associated with this condition is rather uncharacteristic, and most common features are craniofacial dysmorphisms and developmental delay. We describe a boy with craniofacial dysmorphic features, developmental delay, tetralogy of Fallot, hand/foot abnormalities, and recurrent respiratory tract infections. Chromosomal microarray analysis disclosed a 7.8-Mb microdeletion at 10q22.3q23.2, flanked by LCRs 3/4, and an additional 16q12.1 microdeletion of 189 kb. This article reviews the clinical signs of reported cases with similar deletions and compares them with our patient, contributing to a better understanding of genotype-phenotype correlation. (C) 2017 S. Karger AG, Basel (AU)

• FAPESP's process: 09/08756-1 - Velocardiofacial syndrome: laboratorial investigation and phenocopy possibilyts
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Regular Research Grants
• FAPESP's process: 12/51799-6 - Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)
• FAPESP's process: 08/10596-0 - Investigation of copy number variation by SNP array in congenital defects with complex inheritance: the model of cleft lip and palate
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Regular Research Grants
• FAPESP's process: 11/23794-7 - Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Regular Research Grants