Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome.
Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2. FISH analysis showed trisomy or tetrasomy 12p. Patient 3, who had clinical features comparable to those of patients 1 and 2, was diagnosed by using FISH analysis alone. Here, we report three patients with mosaic tetrasomy 12p. There have been only reported cases diagnosed by chromosome analysis and FISH analysis on skin fibroblast or amniotic fluid. To our knowledge, patient 1 was the first case diagnosed by using array CGH performed on peripheral lymphocytes in Korea.
Green Cross Laboratories, Yongin, Korea.
Mi Na
MN
Lee
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Jiwon
J
Lee
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Hee Joon
HJ
Yu
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Jeehun
J
Lee
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. sunnyhk@skku.edu.
Sun Hee
SH
Kim
D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis*; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D008297:Male; D058670:Tetrasomy
Array CGH; Isochromosome 12p; Pallister-Killian syndrome; Tetrasomy 12p