Abstract |
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.
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Authors | Zöe Powis, Sung-Hae L Kang, M Lance Cooper, Ankita Patel, Daniel A Peiffer, Anne Hawkins, Randall Heidenreich, Kevin L Gunderson, Sau W Cheung, Robert P Erickson |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 143A
Issue 24
Pg. 2910-5
(Dec 15 2007)
ISSN: 1552-4833 [Electronic] United States |
PMID | 18000900
(Publication Type: Case Reports, Journal Article)
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Copyright | (c) 2007 Wiley-Liss, Inc. |
Chemical References |
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Topics |
- Abnormalities, Multiple
(diagnosis, genetics)
- Aneuploidy
- Chromosome Aberrations
- Chromosome Disorders
(genetics)
- Chromosomes, Human, Pair 12
- Cytogenetic Analysis
- DNA
(genetics)
- Facies
- Gene Duplication
- Humans
- Infant
- Male
- Mosaicism
- Nucleic Acid Hybridization
- Sequence Analysis, DNA
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