title: Clinical outcome: a monosomy 18p is better than a tetrasomy 18p.
abstract: We report the clinical and laboratory data of 2 patients with different rearrangements involving the short arm of chromosome 18, one with an isochromosome 18p (tetrasomy 18p) and the other with an 18p deletion (monosomy 18p by translocation t(15;18)). Based on molecular cytogenetic findings including high-resolution SNP array, FISH, and multiplex fluorescence PCR, we compared the clinical phenotypes of the 2 patients with other reported patients with 18p deletion, trisomy 18, and isochromosome 18p syndromes to obtain genotype/phenotype correlations. Our findings suggest that a partial monosomy 18p has the better clinical outcome than a tetrasomy 18p.
authors: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, PR China.
authors: Jun
authors: J
authors: Wei
authors: Yingjun
authors: Y
authors: Xie
authors: Wenyin
authors: W
authors: He
authors: Weiqiang
authors: W
authors: Liu
authors: Wei
authors: W
authors: Jian
authors: Min
authors: M
authors: Chen
authors: Ding
authors: D
authors: Wang
authors: Xiaoman
authors: X
authors: Wang
authors: Xiaofang
authors: X
authors: Sun
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D018404:Isochromosomes; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D058670:Tetrasomy