title: Velocardiofacial syndrome in an unexplained XX male.
abstract: We report the unusual finding of velocardiofacial syndrome (VCF) in an unexplained 46,XX male. A microdeletion of 22q11.2 was confirmed by fluorescence in situ hybridization (FISH) analysis. Routine G-banded chromosome analysis revealed an XX sex chromosome constitution. FISH was performed using the SRY probe and failed to detect hybridization. The sex chromosome status of the patient was further investigated by PCR testing to screen for the presence of 24 distinct loci spanning the Y chromosome. PCR screening failed to detect any apparent Y chromosome material.
authors.affiliation: Genetic Diagnostic Laboratory, T.C. Thompson Children's Hospital, Chattanooga, Tennessee 37403, USA. phelank@erlanger.org
authors.forename: Mary C
authors.initials: MC
authors.lastname: Phelan
authors.forename: R Curtis
authors.initials: RC
authors.lastname: Rogers
authors.forename: Eric C
authors.initials: EC
authors.lastname: Crawford
authors.forename: Laura G
authors.initials: LG
authors.lastname: Brown
authors.forename: David C
authors.initials: DC
authors.lastname: Page
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D002972:Cleft Palate / Q000473:pathology; D012734:Disorders of Sex Development; D005145:Face / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations; D013577:Syndrome