Open AccessPeruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature
Author(s) -
Hugo Hernán Abarca Barriga,
Milana Trubnykova,
Félix Chavesta-Velásquez,
Claudia Barletta-Carrillo,
Marco Edmundo Ordoñez-Linares,
Evelina Andrea Rondón-Abuhadba
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-3402048
Subject(s) - haploinsufficiency , hypotonia , speech delay , medicine , hypertelorism , microphthalmia , micropenis , laryngomalacia , genetics , pediatrics , hypospadias , anatomy , surgery , gene , biology , phenotype , airway , stridor
Copy number variation in loss of 3p13 is an infrequently reported entity characterized by hypertelorism, aniridia, microphthalmia, high palate, neurosensorial deafness, camptodactyly, heart malformation, development delay, autism spectrum disorder, seizures, and choanal atresia. The entity is caused probably by haploinsufficiency for FOXP1, UBA3, FAM19A1, and MITF. We report a newborn male with hypotonia, facial dysmorphism, heart malformation, and without clinical diagnosis; nevertheless, the use of appropriate genetic test, such us the chromosomal microarray analysis allowed identification of a copy number variant in loss of 5.5 Mb at chromosome 3 (p13-p14.1), that included 54 genes, encompassing FOXP1 gene. We compare the findings in our Peruvian patient to those of earlier reported patients; furthermore, add new signs for this entity.