9p subtelomere deletion: pathogenic mutation or normal variant?

C Techakittiroj; K C Kim; H Andersson; Marilyn M Li

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PubMed · 16415976

9p subtelomere deletion: pathogenic mutation or normal variant?

C Techakittiroj·K C Kim·H Andersson·Marilyn M Li

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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.

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Chromosome Deletion Congenital Abnormalities Humans Infant, Newborn Infant, Premature Male Sequence Deletion Telomere Case Reports Journal Article

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C Techakittiroj, K C Kim, H Andersson, Marilyn M Li. 2006-02-18. 9p subtelomere deletion: pathogenic mutation or normal variant?. https://pubmed.ncbi.nlm.nih.gov/16415976/

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