title: Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality.
abstract: We report on an infant with a karyotype of 46,XY,del(2) (p11.2p13), the fourth reported case in the literature. At birth, the child had eventration of the diaphragm. His phenotype was suggestive of a connective tissue disorder with scoliosis, pectus carinatum, long slender fingers, camptodactyly, cryptorchidism, hypertonia and myopia. His facial appearance was mildly dysmorphic and strongly resembled a previously reported patient with the same deletion. The child expired at 2 months of age. Some generalizations can be made about the phenotype for del(2)(p11.2p13), despite reporting of cases at different ages.
authors.affiliation: Department of Pediatrics, University of Pittsburgh, Children's Hospital of Pittsburgh, PA, USA.
authors.forename: S L
authors.initials: SL
authors.lastname: Wenger
authors.forename: E W
authors.initials: EW
authors.lastname: McPherson
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics / Q000503:physiopathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D003964:Diaphragm / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics