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Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome

โœ Scribed by Reeser, Suzanne L. Thornburg ;Wenger, Sharon L.


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
411 KB
Volume
42
Category
Article
ISSN
0148-7299

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Report of two new cases of Pallister-Kil
โœ Schubert, Regine; Viersbach, Renate; Eggermann, Thomas; Hansmann, Manfred; Schwa ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 16 KB ๐Ÿ‘ 2 views

Tissue-specific mosaic distribution of an additional isochromosome 12p is the characteristic chromosomal aberration in Pallister-Killian syndrome. Often it is confined to fibroblasts, whereas lymphocytes show a normal karyotype. Two cases are reported in which the distribution of the additional i(12