9p subtelomere deletion: pathogenic mutation or normal variant?
- VernacularTitle:9p亚端粒微小缺失是致病性突变还是正常遗传变异?
- Author:
C. TECHAKITTIROJ
;
K.C. KIM
;
H. ANDERSSON
;
Marilyn M. LI
- Publication Type:Journal Article
- Keywords:
Chromosome deletion;
In situ hybridization,fluorescence;
Abnormalities;
Mutation;
Variation(Genetics)
- From:
Journal of Peking University(Health Sciences)
2006;38(1):92-93
- CountryChina
- Language:Chinese
-
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 patient's 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.
