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Nascer e Crescer
versão impressa ISSN 0872-0754
Nascer e Crescer vol.25 supl.1 Porto dez. 2016
POSTER ABSTRACTS / RESUMOS DE POSTERS
P-10
3P Deletion syndrome and congenital heart disease: case report
Sílvia Pires1; Natália Oliva-Teles1,2; Manuela Mota Freitas1,2; Dulce Oliveira3; Maria do Céu Rodrigues4; Sílvia Álvares5; M Fonseca Silva1
1Unidade de Citogenética, Centro Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, Porto
2Unidade Multidisciplinar de Investigação Biomédica (UMIB)/ Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto
3Consulta de Neonatologia, Centro Materno-Infantil do Norte, Centro Hospitalar do Porto, Porto
4Centro de Diagnóstico Pré-Natal, Centro Materno-Infantil do Norte, Centro Hospitalar do Porto, Porto
5Serviço de Cardiologia Pediátrica, Centro Hospitalar do Porto, Porto
E-mail: silvia.pires@chporto.min-saude.pt
Congenital heart defects (CHD) are an important cause of morbidity and mortality affecting approximately 8 in every 1000 children. Distal deletions of the short arm of chromosome 3 (3p25->3pter) produce a rare distinct clinical syndrome (3psyndrome, OMIM #613792) characterised by developmental delay, low birth weight, microcephaly and growth retardation, as well as a characteristic dysmorphology. Variable features include postaxial polydactyly, cleft palate, renal and intestinal anomalies. Congenital heart defects, typically atrioventricular septal defect (AVSD), occur in about a third of all cases; few patients with normal intelligence or only mild abnormalities have been described.
The authors present a newborn infant with a 46,XY,del(3) (p25.2)dn karyotype with typical findings of 3p Deletion Syndrome, including characteristic facial features, low birth weight and postaxial polydactyly, as well as AVSD; he died at three weeks, the newborn period having been complicated by pneumonia.
Previous publications defined a minimum candidate region conferring the common features of the syndrome, refined a region for CHD susceptibility and identified a possible locus for AVSD in 3p25.
The authors will discuss the location of significant genes and establish the genotype/phenotype correlation between the patient and the previous cases described in the literature.