title: Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.
abstract: Partial monosomy of 22q, resulting from a de novo unbalanced translocation t(X;22)(q28;q11) was detected in a newborn female with manifestations of the DiGeorge anomaly including multiple anomalies, type I truncus arteriosus, T-cell abnormalities, thymic aplasia and parathyroid hypoplasia noted on postmortem examination. Although DiGeorge anomaly is causally heterogeneous, our patient, together with 18 previously known cases, confirm that partial monosomy of the proximal long arm of chromosome 22 is the single most common cause of this polytopic developmental field defect.
authors.affiliation: Department of Public Health and Cell Biology, IInd University of Rome, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: B
authors.initials: B
authors.lastname: Marino
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: G
authors.initials: G
authors.lastname: Valorani
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D014178:Translocation, Genetic; D014960:X Chromosome