A Rapid and Noninvasive Method for Detecting Tissue-Limited Mosaicism: Detection of i(12)(p10) in Buccal Smear from a Child with Pallister-Killian Syndrome

Gopalrao V N Velagaleti, Jill K. Tapper, Bill A. Rampy, Shuliu Zhang, Judy C. Hawkins, Lillian Lockhart

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19 Scopus citations


Pallister-Killian syndrome (PKS), a rare disorder, is characterized by tissue-limited or tissue-specific mosaicism. The characteristic chromosome abnormality associated with PKS is i(12p), which is seen predominantly in skin fibroblast cultures. Diagnosis of i(12p) has been carried out on buccal smears before and was shown to be an easy and feasible method. All previously published studies used α-satellite probes for the diagnosis and as such have several pitfalls. Our approach, using dual-color, locus-specific probes, has high specificity and sensitivity for the diagnosis of i(12p). Using statistical analysis, we have also confirmed that the signal pattern in interphase nuclei is consistent with isochromosome 12p.

Original languageEnglish (US)
Pages (from-to)219-223
Number of pages5
JournalGenetic Testing
Issue number3
StatePublished - Sep 2003


ASJC Scopus subject areas

  • Genetics(clinical)

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