Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Research Article, J Genet Disor Genet Rep Vol: 6 Issue: 2

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

Huang MH1,2,3, Yang IF4, Lee C2,3, Chang JS2,3, Wang HC2,3, Tou WS2,3, Ling FC2,3, Lai HL2,3, Tsai LP5 and Ho SP1*

1Department of Veterinary Medicine, National Chung Hsing University

2Dr. Lee Woman Clinic, Taipei, Taiwan

3Youthgene Medical Laboratory, Taipei, Taiwan

4Department of Obstetrics and Gynecology, Shin-Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan

5Department of Pediatrics, Buddhist Tzu Chi General Hospital, Taipei branch, Taipei, Taiwan

*Corresponding Author : Shu-Peng Ho
Department of Veterinary Medicine, National Chung Hsing University, 250 KuoKuang Road, Taichung, Taiwan (R.O.C.)
Tel: +886-4-22840368 extn. 21
Fax: +886-4-22862073
E-mail: [email protected]

Received: April 17, 2017 Accepted: June 24, 2017 Published: June 30, 2017

Citation: Huang MH, Yang IF, Lee C, Chang JS, Wang HC, et al. (2017) Pallister-Killian Syndrome: Undetected by Percutaneous Umbilical Blood Karyotyping and Neonatal Blood Microarray Comparative Genomic Hybridization. J Genet Disor Genet Rep 6:2.doi: 10.4172/2327-5790.1000153


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 culture.The karyotype was confirmed to be mos47,XY,+mar.ish i(12p)[110]/46,XY[11], and array CGH revealed a fourfold increment in 12p. Amniocentesis and conventional chromosomal analysis complements the FISH and array CGH is the optimal method in prenatal diagnosis of PKS. However fetal blood sampling chromosome analysis and peripheral blood array CGH are not recommended because of tissue-limited mosaicism of i(12p) is the characteristic cytogenetic feature of PKS and the extra-chromosome can rarely be identified in blood lymphocyte either prenatally or postnatally.

Keywords: Pallister-Killian syndrome; Mosaic isochromosome 12p; Fetal blood sampling; Fluorescence in-situ hybridization; Array comparative genomic hybridization

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