title: Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome?
abstract: A patient with a deletion in the DiGeorge/velocardiofacial chromosomal region in 22q11, underwent cardiac repair for truncus arteriosus with a separate origin of the pulmonary arteries. This patient presented with a severe coagulation disorder similar to that described in the Bernard-Soulier syndrome. Additional features included minor facial anomalies, transient hypocalcemia and renal failure. To the best of our knowledge, this is the third case of a severe bleeding disorder associated with 22q 11 deletion reported in the literature.
authors.affiliation: Molecular Biology Laboratory, G. Pasquinucci Hospital, Massa, Italy.
authors.forename: M R
authors.initials: MR
authors.lastname: Iascone
authors.forename: M
authors.initials: M
authors.lastname: Sacchelli
authors.forename: S
authors.initials: S
authors.lastname: Vittorini
authors.forename: S
authors.initials: S
authors.lastname: Giusti
mesh_terms: D001606:Bernard-Soulier Syndrome / Q000150:complications*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005192:Family Health; D006330:Heart Defects, Congenital / Q000150:complications*; D006470:Hemorrhage / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male