Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations
A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observe...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/785830 |
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| author | Nirmala D. Sirisena U. Kalpani S. Wijetunge Ramya de Silva Vajira H. W. Dissanayake |
| author_facet | Nirmala D. Sirisena U. Kalpani S. Wijetunge Ramya de Silva Vajira H. W. Dissanayake |
| author_sort | Nirmala D. Sirisena |
| collection | DOAJ |
| description | A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22→pter)]. This is the first reported case of a de novo deletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome. |
| format | Article |
| id | doaj-art-bac84750d0de475a9d77a62c85243ad2 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-bac84750d0de475a9d77a62c85243ad22025-02-03T06:15:11ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/785830785830Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital MalformationsNirmala D. Sirisena0U. Kalpani S. Wijetunge1Ramya de Silva2Vajira H. W. Dissanayake3Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 08, 00800, Sri LankaAsiri Center for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo 05, 00500, Sri LankaLady Ridgeway Children’s Hospital, Colombo 08, 00800, Sri LankaHuman Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 08, 00800, Sri LankaA 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22→pter)]. This is the first reported case of a de novo deletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome.http://dx.doi.org/10.1155/2013/785830 |
| spellingShingle | Nirmala D. Sirisena U. Kalpani S. Wijetunge Ramya de Silva Vajira H. W. Dissanayake Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations Case Reports in Genetics |
| title | Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations |
| title_full | Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations |
| title_fullStr | Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations |
| title_full_unstemmed | Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations |
| title_short | Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations |
| title_sort | child with deletion 9p syndrome presenting with craniofacial dysmorphism developmental delay and multiple congenital malformations |
| url | http://dx.doi.org/10.1155/2013/785830 |
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