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| Silva,Aline Lourenço da; Ribeiro,Lucilene Arilho; Cooper,Margaret E; Marazita,Mary L; Moretti-Ferreira,Danilo. |
| Cleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T polymorphisms in 60 parent-child triads, in which the NS-CL/P affected child had at least one affected parent. No association with genes MSX1 or TGFB3 was found, but the results were suggestive of an association of the MTHFR-C677T polymorphism with NS-CL/P. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Oral clefts; Cleft lip; Cleft palate. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300005 |
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| Oliveira,Jakeline Santos; Joaquim,Tatiana Mozer; Silva,Rosana Aparecida Bicudo da; Souza,Deise Helena de; Martelli,Lúcia Regina; Moretti-Ferreira,Danilo. |
| Abstract Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The patient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as “pure” partial... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Duplication 12p; Array-CGH; Facial dysmorphism. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103 |
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