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Article

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

American journal of medical genetics. Part A - 1 Dec 2012

Conlin Laura K, Kaur Maninder, Izumi Kosuke, Campbell Lindsey, Wilkens Alisha, Clark Dinah, Deardorff Matthew A, Zackai Elaine H, Pallister Phillip, Hakonarson Hakon, Spinner Nancy B, Krantz Ian D

Abstract excerpt

Identification of the isochromosome 12p (i(12p)) associated with Pallister-Killian syndrome is complicated by the low frequency of this supernumerary chromosome in PHA stimulated peripheral blood lymphocytes, and frequently requires cytogenetic analysis of fibroblast cells. Recently, it has been shown that array CGH techniques are able to detect tetrasomy 12p in peripheral blood, even when not identified by...

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PMID: 23169773
DOI: 10.1002/ajmg.a.35726

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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