First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes

First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes

ABSTRACT Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being consi...

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Main Authors: Ana Kalise Böttcher, Monique Banik Siqueira, Natasha Malgarezi, Marcela Rodrigues Nunes, Rafaella Mergener, Luisa Pigatto Kalil, Patrícia Trevisan, Paulo Ricardo Gazzola Zen
Format: Article
Language:English
Published: Sociedade de Pediatria de São Paulo 2025-01-01
Series:Revista Paulista de Pediatria
Subjects:
Cardiomyopathies
Heart defects
congenital
Hypoplastic left heart syndrome
Chromosome disorders
Cytogenetic analysis
Fetal heart
Genetic diseases; inborn.
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822025000100608&lng=en&tlng=en
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