title: Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
abstract: We report on an infant, born to a diabetic mother, who presented with hypocalcemia and congenital heart disease, presurgically diagnosed by echocardiography as truncus arteriosus type I. Cytogenetic analysis showed a 45,X,-Y,-22,+der-(Y)t(Y;22) (p11.3q11.2) chromosome abnormality with del(22)(q11.2). Parental chromosomes were normal. Autopsy showed persistent truncus arteriosus type II and thymic aplasia consistent with DiGeorge anomaly. This report adds to the existing literature demonstrating an association between DiGeorge anomaly and monosomy 22q11.
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
authors.forename: C
authors.initials: C
authors.lastname: Langston
authors.forename: R
authors.initials: R
authors.lastname: Friedman
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: F
authors.initials: F
authors.lastname: Greenberg
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D006996:Hypocalcemia / Q000150:complications; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy; D014178:Translocation, Genetic / Q000235:genetics*; D014339:Truncus Arteriosus, Persistent / Q000150:complications; D014998:Y Chromosome