Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Posters/abstracts em congressos internacionais >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/803

Título: Chromosome 1p36 deletion syndrome: a report on 4 cases
Autor: Candeias, Cristina
Mota Freitas, Manuela
Ribeiro, Joana
Oliveira, Fernanda Paula
Aguiar, Joaquim
Oliva Teles, Natália
Soares, Gabriela
Carrilho, Inês
Martins, Márcia
Correia, Hildeberto
Fonseca Silva, Maria da Luz
Palavras-chave: Doenças Genéticas
Telomere
Deletion
1p36
Monosomy
Issue Date: Jul-2011
Editora: SpringerLink
Citação: Chromosome Res. 2011;19(Suppl 1): S119-S120
Resumo: Chromosome 1p36 deletion syndrome (MIM #607872) was first described in 1997 by Shapira et al. This condition is compatible with a monosomy of the 1p36 band in the distal region of the short arm of chromosome 1 and is the most common terminal deletion in humans, with an estimated prevalence of approximately 1 in 5,000 live births. This constitutional deletion is associated with mental retardation, developmental delay, seizures, hypotonia and heart defects. The syndrome is also characterized by several distinct dysmorphic features, including large anterior fontanels, microcephaly, brachycephaly, deep-set eyes, flat nose and nasal bridge, and pointed chin. The 1p36 band is not very clearly visible using classical cytogenetics, and it is therefore difficult to detect these deletions in banded karyotypes. Fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) analysis have increasingly been used, in addition to classical cytogenetic analysis, in children with mental retardation in order to identify this chromosomal abnormality. The authors present four patients between 1 month and 14 years of age with apparently normal karyotypes. Using molecular cytogenetic techniques, all cases showed a “pure” 1p36 deletion: three were detected by FISH (CEB108/T7, located at 1p36.3, Vysis) and are “de novo”; the fourth was detected by MLPA (P036 and P070, MRC Holland) analysis, and its origin is still unknown. The phenotypes of these patients are described and compared with other cases having this syndrome, described in the literature. We also emphasize the importance of good clinical characterization in order to establish the best cytogenetic strategy to assure accurate diagnosis.
Arbitragem científica: yes
URI: http://hdl.handle.net/10400.18/803
ISSN: 0967-3849
Appears in Collections:DGH - Posters/abstracts em congressos internacionais

Files in This Item:

File Description SizeFormat
ECA 2011 - 3P3.pdf57,97 kBAdobe PDFView/Open
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde
Promotores do RCAAP   Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência PO Sociedade do Conhecimento (POSC) Portal oficial da União Europeia