title: Mosaic 22q11.2 deletion and tetralogy of Fallot with absent pulmonary valve: an unreported association.
abstract: Chromosome 22q11.2 microdeletion is the most common microdeletion syndrome. Mosaic 22q11.2 deletions are very rare and only a few have been reported. We describe a case of a neonate with tetralogy of Fallot with absent pulmonary valve with mosaic 22q11.2 deletion. Fluorescent in situ hybridization analysis of lymphocytes showed a hemizygous 22q11.2 microdeletion in 66% of interphase nuclei. Microarray testing confirmed a 1.66 Mb deletion at 22q11.2. The child did not have any clinical manifestations of 22q11.2 deletion other than the cardiac malformation.
authors: Queensland Pediatric Cardiac Service, Mater Children's Hospital, Brisbane, Australia Department of Surgery, School of Medicine, University of Queensland, Brisbane, Australia sudesh006@gmail.com.
authors: Sudesh
authors: S
authors: Prabhu
authors: Department of Pathology, Cytogenetics Laboratory, Mater Children's Hospital, Brisbane, Australia.
authors: Bryan
authors: B
authors: Jenny
authors: Department of Pathology, Cytogenetics Laboratory, Mater Children's Hospital, Brisbane, Australia.
authors: Harraway
authors: H
authors: James
authors: Queensland Pediatric Cardiac Service, Mater Children's Hospital, Brisbane, Australia.
authors: Sylvio
authors: S
authors: Provenzano
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D011664:Pulmonary Valve / Q000002:abnormalities*; D013577:Syndrome; D013771:Tetralogy of Fallot
keywords: 22q11.2 deletion; absent pulmonary valve; mosaicism; tetralogy of Fallot