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Case Rep Genet. 2012;2012:321569. doi: 10.1155/2012/321569. Epub 2012 Dec 25.

Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3).

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Hospital Pediátrico William Soler, Calle San Francisco Esquina Perla, Altahabana, Boyeros, La Habana, Cuba.


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.

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