9p subtelomere deletion: pathogenic mutation or normal variant?
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.
Techakittiroj
C
C
Human Genetics Program, Hayward Genetics Center, USA.
Kim
K C
KC
Andersson
H
H
Li
Marilyn M
MM
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*