Ling FC Author

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Pallister-Killian Syndrome: Undetected by Percutaneous Umbilical Blood Karyotyping and Neonatal Blood Microarray Comparative Genomic Hybridization

Author(s):

Huang MH, Yang IF, Lee C, Chang JS, Wang HC, Tou WS, Ling FC, Lai HL, Tsai LP and Ho SP

Pallister-Killian Syndrome (PKS) is a rare sporadic genetic disorder and tissue-limited characteristics of i(12p) mosaicism. We report a boy who is diagnosed with PKS until the age of 2 years and 3 months. Amniocentesis at 18 weeks of gestation due to advanced maternal age revealed a mosaic supernumerary marker chromosome (47,XY,+mar[30]/46,XY[28]) which was suspected to be an isochromosome 21q. At 21 weeks of gestation, subsequent fetal blood sampling done in another clinic disclosed a normal male karyotype (46,XY). Therefore, the mother chose to continue pregnancy. A conventional chromosome analysis complements the Fluorescence In-Situ Hybridization (FISH) and array Comparative Genomic Hybridization (aCGH) were done from patient’s skin fibroblast cul... view more»

DOI: 10.4172/2327-5790.1000153

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