Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)
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 ea...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/321569 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832556749090979840 |
|---|---|
| author | Norma Elena de León Ojeda Michel Soriano-Torres Mercedes J. Cabrera Dunia Bárbara Benítez Ramos |
| author_facet | Norma Elena de León Ojeda Michel Soriano-Torres Mercedes J. Cabrera Dunia Bárbara Benítez Ramos |
| author_sort | Norma Elena de León Ojeda |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7557b36ce41e4ca7b5356574332d9ba8 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-7557b36ce41e4ca7b5356574332d9ba82025-02-03T05:44:29ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/321569321569Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)Norma Elena de León Ojeda0Michel Soriano-Torres1Mercedes J. Cabrera2Dunia Bárbara Benítez Ramos3Hospital Pediátrico William Soler, Calle San Francisco Esquina Perla, Altahabana, Boyeros, La Habana, CubaCentro Nacional de Genética Médica, Avenida 31 y Calle 146, Cubanacán, Playa, La Habana, CubaCentro Nacional de Genética Médica, Avenida 31 y Calle 146, Cubanacán, Playa, La Habana, CubaHospital Pediátrico William Soler, Calle San Francisco Esquina Perla, Altahabana, Boyeros, La Habana, CubaWe 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.http://dx.doi.org/10.1155/2012/321569 |
| spellingShingle | Norma Elena de León Ojeda Michel Soriano-Torres Mercedes J. Cabrera Dunia Bárbara Benítez Ramos Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) Case Reports in Genetics |
| title | Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) |
| title_full | Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) |
| title_fullStr | Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) |
| title_full_unstemmed | Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) |
| title_short | Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) |
| title_sort | novel vascular malformation in an affected newborn with deletion del 4 q31 3 |
| url | http://dx.doi.org/10.1155/2012/321569 |
| work_keys_str_mv | AT normaelenadeleonojeda novelvascularmalformationinanaffectednewbornwithdeletiondel4q313 AT michelsorianotorres novelvascularmalformationinanaffectednewbornwithdeletiondel4q313 AT mercedesjcabrera novelvascularmalformationinanaffectednewbornwithdeletiondel4q313 AT duniabarbarabenitezramos novelvascularmalformationinanaffectednewbornwithdeletiondel4q313 |