Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1 - Slavotinek, A; Lee, S S; Davis, R; Shrit, A; Leppig, K A; Rhim, J; Jasnosz, K; Albertson, D; Pinkel, D (Journal of medical genetics, 2005)
Keywords: Abnormalities, Multiple - genetics; Aortic stenosis; array CGH; array comparative genomic hybridisation; BAC; bacterial artificial chromosome; Biological and medical sciences; Birth defects; Cardiology. Vascular system; CCD; CDH; charge-cooled device; CHR; Chromosome Aberrations; Chromosome Deletion; Chromosomes; Committee for Human Subjects Research; congenital diaphragmatic hernia; CRL; crown-rump length; Female; FISH; fluorescence in situ hybridisation; Fryns syndrome; General aspects. Genetic counseling; Genotype & phenotype; Heart; Hernia, Diaphragmatic - genetics; Hernias; Hernias, Diaphragmatic, Congenital; Humans; Infant; Karyotyping; Letter to JMG; Male; Medical genetics; Medical sciences; microdeletion; Microsatellite Repeats; Nucleic Acid Hybridization - methods; Oligonucleotide Array Sequence Analysis - methods; PCR; Phenotype; polymerase chain reaction; submicroscopic chromosome deletion; Syndrome; Veins & arteries; Genetic mapping; Human; Microdeletion; Phenotype; Chromosome; Genetics; Syndrome