title: Chromosome 22q11.2 microdeletion in a patient with hemophilia A.
abstract: We report a 6-year-old patient with hemophilia A, who also exhibited clinical features typical of 22q11.2 deletion syndrome (22qDS). The specific traits were mild mental retardation, speech delay, hypernasal speech, deficits in voice quality and articulation, narrow palpebral fissures, broad and depressed nasal root, high-arched palate, microstomia, and overfolded ears. The patient had no associated congenital cardiac or palatal malformations. It can be particularly difficult to identify this syndrome in newborns and infants without congenital heart defects. This case underlines that microdeletion of chromosome 22q11.2 should be considered in any patient who exhibits typical clinical features of 22qDS, regardless of whether they have another single-gene disorder.
authors.affiliation: Department of Pediatrics, Clinical Genetics Unit, Baskent University Faculty of Medicine, 6, Street Bahcelievler, 06490 Ankara, Turkey. muratder@superonline.com
authors.forename: Murat
authors.initials: M
authors.lastname: Derbent
authors.forename: Namik
authors.initials: N
authors.lastname: Ozbek
authors.forename: Füsun
authors.initials: F
authors.lastname: Alehan
authors.forename: Zerrin
authors.initials: Z
authors.lastname: Yilmaz
mesh_terms: D001847:Bone Diseases / Q000235:genetics; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D013577:Syndrome