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Case Reports in Genetics
Volume 2013, Article ID 785830, 4 pages
Case Report

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

1Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 08, 00800, Sri Lanka
2Asiri Center for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo 05, 00500, Sri Lanka
3Lady Ridgeway Children’s Hospital, Colombo 08, 00800, Sri Lanka

Received 21 June 2013; Accepted 9 July 2013

Academic Editors: D. J. Bunyan, D. M. Iovannisci, A. Sazci, and G. Vogt

Copyright © 2013 Nirmala D. Sirisena et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.