Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)
Joint Authors
de León Ojeda, Norma Elena
Benítez Ramos, Dunia Bárbara
Cabrera, Mercedes J.
Soriano-Torres, Michel
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-12-25
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
de León Ojeda, Norma Elena& Soriano-Torres, Michel& Cabrera, Mercedes J.& Benítez Ramos, Dunia Bárbara. 2012. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3). Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-463379
Modern Language Association (MLA)
de León Ojeda, Norma Elena…[et al.]. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3). Case Reports in Genetics No. 2012 (2012), pp.1-5.
https://search.emarefa.net/detail/BIM-463379
American Medical Association (AMA)
de León Ojeda, Norma Elena& Soriano-Torres, Michel& Cabrera, Mercedes J.& Benítez Ramos, Dunia Bárbara. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3). Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-463379
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-463379