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Pallister-Killian syndrome: report of one case.
Acta Paediatr Taiwan. 2006 May-Jun; 47(3):139-41.AP

Abstract

Pallister-Killian Syndrome (PKS) is a rare sporadic congenital anomaly disorder, characterized by multiple congenital anomalies, especially craniofacial dysmorphism. It is also associated with mental retardation, seizure, skin pigmentation, and visceral malformations such as congenital diaphragmatic hernia, congenital heart defect, anorectal anomalies, and genital malformation. This syndrome usually presents with tissue-limited mosaicism of supernumerary 12p isochromosome i (12p). Moreover, diagnosis of Pallister-Killian Syndrome (PKS) is difficult because the ratio of abnormal to normal karyotyping is much lower in peripheral lymphocytes than in skin fibroblasts. We report the first case in Taiwan, who has tetrasomy 12p mosaic in peripheral lymphocytes.

Authors+Show Affiliations

Department of Pediatrics, Cathay General Hospital- Sijhih, No. 2, Lane 59, Jiancheng Rd., Sijhih City, Taipei 221, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17078467

Citation

Wu, Hui-Chung, et al. "Pallister-Killian Syndrome: Report of One Case." Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, vol. 47, no. 3, 2006, pp. 139-41.
Wu HC, Lin LH, Tsai LP, et al. Pallister-Killian syndrome: report of one case. Acta Paediatr Taiwan. 2006;47(3):139-41.
Wu, H. C., Lin, L. H., Tsai, L. P., Huang, C. H., Hung, K. L., & Liao, H. T. (2006). Pallister-Killian syndrome: report of one case. Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 47(3), 139-41.
Wu HC, et al. Pallister-Killian Syndrome: Report of One Case. Acta Paediatr Taiwan. 2006 May-Jun;47(3):139-41. PubMed PMID: 17078467.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pallister-Killian syndrome: report of one case. AU - Wu,Hui-Chung, AU - Lin,Lung-Huang, AU - Tsai,Li-Ping, AU - Huang,Cheng-Hung, AU - Hung,Kun-Long, AU - Liao,Hung-Tsai, PY - 2006/11/3/pubmed PY - 2007/7/13/medline PY - 2006/11/3/entrez SP - 139 EP - 41 JF - Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi JO - Acta Paediatr Taiwan VL - 47 IS - 3 N2 - Pallister-Killian Syndrome (PKS) is a rare sporadic congenital anomaly disorder, characterized by multiple congenital anomalies, especially craniofacial dysmorphism. It is also associated with mental retardation, seizure, skin pigmentation, and visceral malformations such as congenital diaphragmatic hernia, congenital heart defect, anorectal anomalies, and genital malformation. This syndrome usually presents with tissue-limited mosaicism of supernumerary 12p isochromosome i (12p). Moreover, diagnosis of Pallister-Killian Syndrome (PKS) is difficult because the ratio of abnormal to normal karyotyping is much lower in peripheral lymphocytes than in skin fibroblasts. We report the first case in Taiwan, who has tetrasomy 12p mosaic in peripheral lymphocytes. SN - 1608-8115 UR - https://www.unboundmedicine.com/medline/citation/17078467/Pallister_Killian_syndrome:_report_of_one_case_ L2 - http://www.diseaseinfosearch.org/result/5540 DB - PRIME DP - Unbound Medicine ER -