title: Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3).
abstract: We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chromosome analysis showed 46, XY, del(4)(q31.3) de novo. The only reported case with the same deletion was a male newborn that exhibited the pattern of minor anomalies of deletion 4q31 syndrome. The parents were cytogenetically normal. We compare clinical signs to other cases with a deletion in long arm of chromosome 4.
authors: Hospital Pediátrico William Soler, Calle San Francisco Esquina Perla, Altahabana, Boyeros, La Habana, Cuba.
authors: Norma Elena
authors: NE
authors: de León Ojeda
authors: Michel
authors: M
authors: Soriano-Torres
authors: Mercedes J
authors: MJ
authors: Cabrera
authors: Dunia Bárbara
authors: DB
authors: Benítez Ramos