title: 9p subtelomere deletion: pathogenic mutation or normal variant?
abstract: We report an apparently benign familial 9p subtelomere deletion identified using chromosome-arm-specific subtelomere probes in a patient with multiple congenital anomalies. Our experience demonstrated that the discovery of a subtelomeric deletion and/or duplication does not always guarantee the identification of the etiology for the patients phenotype and a positive finding with subtelomere probes should always be followed by parental study with the same probe in order to distinguish a disease causing alteration from a benign familial polymorphism.
authors.affiliation: Human Genetics Program, Hayward Genetics Center, USA.
authors.forename: C
authors.initials: C
authors.lastname: Techakittiroj
authors.forename: K C
authors.initials: KC
authors.lastname: Kim
authors.forename: H
authors.initials: H
authors.lastname: Andersson
authors.forename: Marilyn M
authors.initials: MM
authors.lastname: Li
mesh_terms: D002872:Chromosome Deletion; D000013:Congenital Abnormalities / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D017384:Sequence Deletion; D016615:Telomere / Q000235:genetics*