title: A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex.
abstract: A preterm infant presenting with a congenital cardiac malformation and thrombocytopenia was found to have a karyotype showing a terminal deletion of the long arm of chromosome 11 of the segment 11q24.1-11qter consistent with Jacobsen syndrome. The infant was later diagnosed with Paris-Trousseau syndrome, commonly associated with Jacobsen syndrome. Because children with cardiac malformations often require high-risk surgical procedures in the early neonatal period, those with platelet dysfunction require prompt identification at birth.
authors.affiliation: *Connecticut Children's Medical Center †Clinical Laboratory Partners and Hartford Hospital, Hartford ‡University of Connecticut, Farmington, CT.
authors.forename: Laurie A
authors.initials: LA
authors.lastname: Malia
authors.forename: Leslie I
authors.initials: LI
authors.lastname: Wolkoff
authors.forename: Laila
authors.initials: L
authors.lastname: Mnayer
authors.forename: Joseph W
authors.initials: JW
authors.lastname: Tucker
authors.forename: Nehal S
authors.initials: NS
authors.lastname: Parikh
mesh_terms: D000015:Abnormalities, Multiple; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000150:complications*; D059785:Karyotype