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: Jun Wei, Yingjun Xie, Wenyin He, Weiqiang Liu, Wei Jian, Min Chen, Ding Wang, Xiaoman Wang, Xiaofang Sun
• Journal: Cytogenetic and genome research (Cytogenet Genome Res) Vol. 144 Issue 4 Pg. 294-8 ( 2014) ISSN: 1424-859X [Electronic] Switzerland
• PMID: 25634515 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (genetics, pathology)
• Aneuploidy
• Child, Preschool
• Chromosomes, Human, Pair 18 (genetics)
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Isochromosomes
• Karyotyping
• Male
• Monosomy
• Phenotype
• Polymorphism, Single Nucleotide
• Tetrasomy