Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA.
A patient whose dysmorphism at birth was not diagnostic for Pallister-Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array-based comparative genomic hybridization of peripheral blood DNA. He was determined to be mosaic for 46,XY,trp(12)(p11.2 --> p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age.
Powis
Zöe
Z
Section of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, Tucson, Arizona, USA.
Kang
Sung-Hae L
SH
Cooper
M Lance
ML
Patel
Ankita
A
Peiffer
Daniel A
DA
Hawkins
Anne
A
Heidenreich
Randall
R
Gunderson
Kevin L
KL
Cheung
Sau W
SW
Erickson
Robert P
RP
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics; D002881:Chromosomes, Human, Pair 12; D020732:Cytogenetic Analysis; D004247:DNA / Q000235:genetics*; D019066:Facies; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D017422:Sequence Analysis, DNA
D004247:DNA