Summary
Pallister-Killian syndrome is characterized by specific dysmorphic features and tissue-limited mosaicism for tetrasomy 12p. We describe an additional case of a stillborn neonate, who had not only the specific craniofacial features seen in the syndrome but also various internal malformations. Cytogenetic study showed that an extra F-like chromosome was found in 43% of lymphocytes and in 90% of fibroblasts. The high resolution G-banded pattern of the extra chromosome was consistent with an interpretation of an i(12p). The diagnosis of tetrasomy 12p was further confirmed by four-fold gene dosage effects in fibroblasts for GAPD and LDH-B, whose locus was both assigned to the 12p. The proportion of tetrasomic cells in fibroblasts decreased remarkably during long-term cultures. These results suggest that the tissue specific mosaicism in the syndrome is not simply a result of preferential selection against lymphocytes carrying the marker but may be related to the time of mosaic formation as well as the somatic selection of different intensity in different tissues.
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Narahara, K., Wakita, Y., Kikkawa, K. et al. Pallister-Killian syndrome: Cytogenetic and biochemical studies. Jap J Human Genet 33, 339–347 (1988). https://doi.org/10.1007/BF02032864
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DOI: https://doi.org/10.1007/BF02032864