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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome

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Author(s):
Molck, Miriam Coelho [1] ; Simioni, Milena [1] ; Vieira, Tarsis Paiva [1] ; Monteiro, Fabiola Paoli [1] ; Gil-da-Silva-Lopes, Vera L. [1]
Total Authors: 5
Affiliation:
[1] Univ Estadual Campinas, UNICAMP, Dept Med Genet, Campinas - Brazil
Total Affiliations: 1
Document type: Journal article
Source: MOLECULAR SYNDROMOLOGY; v. 9, n. 4, p. 197-204, 2018.
Web of Science Citations: 0
Abstract

Partial duplication of chromosome 3q - dup(3q) - is a recognizable syndrome with dysmorphic facial features, microcephaly, digital anomalies, and genitourinary and cardiac defects, as well as growth retardation and developmental delay. Most cases of dup(3q) result from unbalanced trans-locations or inversions and are accompanied by additional chromosomal imbalances. Pure dup(3q) is rare, and only 31 cases have been reported so far. We report a new case of a girl with a pure 2-Mb duplication at 3q26.2 not encompassing the known critical region 3q26.3q27. After an extensive review, to the best of our knowledge, the case herein presented harbors the shortest 3q duplication of this region. The clinical phenotype of this patient resembles previously reported cases of pure dup(3q) syndrome, including intellectual disability, synophrys, a wide nasal bridge, dysmorphic ears, clinodactyly, and cardiac defects. We suggest that the 3q26.2 duplication is a candidate copy number alteration explaining our patient's clinical phenotype. (c) 2018 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