22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review.

Molecular Syndromology
L GaravelliA Riccio

Abstract

22q11.2 deletion syndrome is mainly characterized by conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial appearance. The etiology in the majority of patients is a 3-Mb recurrent deletion in region 22q11.2. Nevertheless, recently some cases of infrequent deletions with various sizes have been reported with a different phenotype. We report on a patient with congenital heart disease (truncus arteriosus type 2) in whom a de novo 1.3-Mb 22q11.2 deletion was detected by array comparative genomic hybridization. The deletion described corresponds to an atypical and distal deletion which spans low copy repeat (LCR) 4 and is associated with breakpoint sites that do not correspond to known LCRs of 22q11.2. We examine the clinical phenotype of our case and compare our findings with those published in the literature. The most prevalent clinical features in this type of deletion are a history of prematurity, pre-natal and post-natal growth retardation, slight facial dysmorphic features, microcephaly and developmental delay, with a speech defect in particular. These are clearly different from those found in the classic 22q11.2 deletion syndrome, and we believe that the main differ...Continue Reading

Citations

Oct 16, 2012·European Journal of Medical Genetics·Christina R FagerbergKeld Sorensen
Aug 16, 2012·American Journal of Medical Genetics. Part a·Judith M A VerhagenMarja W Wessels
Jan 25, 2014·American Journal of Medical Genetics. Part a·Orazio PalumboTeresa Mattina
Mar 19, 2016·American Journal of Medical Genetics. Part a·Amaya Bengoa-AlonsoMaria Antonia Ramos-Arroyo
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Apr 29, 2016·BioMed Research International·Ana Julia Cunha LeiteLysa Bernardes Minasi
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Jan 24, 2015·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Tanju DemirorenAtil Yuksel

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