POSTER ABSTRACTS / RESUMOS DE POSTERS

 

P-10

3P Deletion syndrome and congenital heart disease: case report

 

 

Sílvia Pires¹; Natália Oliva-Teles^1,2; Manuela Mota Freitas^1,2; 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.