title: Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.
abstract: 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.
authors: Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 08, 00800, Sri Lanka.
authors: Nirmala D
authors: ND
authors: Sirisena
authors: U Kalpani S
authors: UK
authors: Wijetunge
authors: Ramya
authors: R
authors: de Silva
authors: Vajira H W
authors: VH
authors: Dissanayake
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