Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype

Imagem de Miniatura
Arquivos
art_PIAZZON_Cytogenomic_characterization_of_an_unexpected_17_6_Mb_2012.PDF (325.45 KB)
Citações na Scopus
4
Tipo de produção
article
Data de publicação
2012
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER SCIENCE BV
Autores
MELONI, Vera de Freitas Ayres
SOARES, Maria de Fatima de Faria
TAKENO, Sylvia Satomi
CHRISTOFOLINI, Denise Maria
BRUNONI, Decio
MELARAGNO, Maria Isabel
Citação
GENE, v.496, n.1, p.59-62, 2012
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution. Array and multiplex-ligation probe amplification (MLPA) techniques identified an unexpected large unbalanced genomic aberration: a 17.6 Mb deletion of 9p associated to a 14.8 Mb duplication of 20p. The deleted 9p genes, especially CER1 and FREM1, seem to be more relevant to the phenotype than the duplicated 20p genes. This study also shows the relevance of using molecular techniques to make an accurate diagnosis in patients with dysmorphic features and multiple anomalies suggestive of chromosome aberration, even if on G-banding their karyotype appears to be normal. Fluorescence in situ hybridization (FISH) was necessary to identify a masked balanced translocation in the patient's mother, indicating the importance of associating cytogenetic and molecular techniques in clinical genetics, given the implications for patient management and genetic counseling.
Palavras-chave
Duplication 20p, Deletion 9p, Array, FISH, MLPA
URI
https://observatorio.fm.usp.br/handle/OPI/1607
Referências
  1. Alazami AM, 2009, AM J HUM GENET, V85, P414, DOI 10.1016/j.ajhg.2009.08.010
  2. Biben C, 1998, DEV BIOL, V194, P135, DOI 10.1006/dbio.1997.8812
  3. Chaabouni M, 2007, AM J MED GENET A, V143A, P1100, DOI 10.1002/ajmg.a.31704
  4. Christ LA, 1999, AM J HUM GENET, V65, P1387, DOI 10.1086/302606
  5. Faas BHW, 2007, AM J MED GENET A, V143A, P2353, DOI 10.1002/ajmg.a.31961
  6. Freitas EL, 2011, AM J MED GENET A, V155A, P2754, DOI 10.1002/ajmg.a.34168
  7. Griggs BL, 2008, GENOMICS, V91, P195, DOI 10.1016/j.ygeno.2007.10.011
  8. Hauge XY, 2008, GENET MED, V10, P599, DOI 10.1097GIM.0b013e31817e2bde
  9. HURET JL, 1988, J MED GENET, V25, P741, DOI 10.1136/jmg.25.11.741
  10. Jehee FS, 2006, CLEFT PALATE-CRAN J, V43, P148, DOI 10.1597/04-206.1
  11. Kawara H, 2006, AM J MED GENET A, V140A, P373, DOI 10.1002/ajmg.a.31094
  12. Kulikowski LD, 2006, AM J MED GENET A, V140A, P82, DOI 10.1002/ajmg.a.31045
  13. Kulikowski LD, 2008, AM J MED GENET A, V146A, P2663, DOI 10.1002/ajmg.a.32510
  14. Lah M, 1999, GENOMICS, V55, P364, DOI 10.1006/geno.1998.5671
  15. Mencarelli MA, 2008, EUR J MED GENET, V51, P409, DOI 10.1016/j.ejmg.2008.06.003
  16. Miller DT, 2010, AM J HUM GENET, V86, P749, DOI 10.1016/j.ajhg.2010.04.006
  17. Schinzel A, 2001, CATALOGUE UNBALANCED, Vxvii
  18. Sidwell RU, 2000, J MED GENET, V37, P454, DOI 10.1136/jmg.37.6.454
  19. Swinkels MEM, 2008, AM J MED GENET A, V146A, P1430, DOI 10.1002/ajmg.a.32310
  20. Zhang Q, 2009, NEW ENGL J MED, V361, P2046, DOI 10.1056/NEJMoa0905506

Coleções
Artigos e Materiais de Revistas Científicas - LIM/03