| Full text | |
| Author(s): |
Molck, Miriam Coelho
[1]
;
Vieira, Tarsis Paiva
[1]
;
Simioni, Milena
[1]
;
Sgardioli, Ilaria Cristina
[1]
;
dos Santos, Ana Paula
[1]
;
Xavier, Ana Carolina
[2]
;
Gil-da-Silva-Lopes, Vera Lucia
[1]
Total Authors: 7
|
| Affiliation: | [1] Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo - Brazil
[2] Ctr Res & Rehabil Lip & Palate Lesions CRRLPL Cen, Joinville, SC - Brazil
Total Affiliations: 2
|
| Document type: | Journal article |
| Source: | AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 167, n. 1, p. 215-220, JAN 2015. |
| Web of Science Citations: | 3 |
| Abstract | |
The 22q11 chromosomal region contains lowcopy repeats (LCRs) sequences that mediate non-allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5-Mb de novo deletion at proximal 22q11.21 region (between LCRs A-D), combined with a 1.3-Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F-H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 deletion syndrome and highlights the difficulty to make genetic counseling and predict phenotypic consequences in these situations. (C) 2014 Wiley Periodicals, Inc. (AU) | |
| 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 |
| 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: | 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 |