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Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations
Joint Authors
Sirisena, Nirmala D.
Wijetunge, U. Kalpani S.
Dissanayake, Vajira H. W.
de Silva, Ramya
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-07-25
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Sirisena, Nirmala D.& Wijetunge, U. Kalpani S.& de Silva, Ramya& Dissanayake, Vajira H. W.. 2013. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-497958
Modern Language Association (MLA)
Sirisena, Nirmala D.…[et al.]. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations. Case Reports in Genetics No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-497958
American Medical Association (AMA)
Sirisena, Nirmala D.& Wijetunge, U. Kalpani S.& de Silva, Ramya& Dissanayake, Vajira H. W.. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-497958
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-497958