INTRODUCTION The tetrasomy 18p （OMIM 614290） is a very rare chromosomal abnormality, with a prevalence of 1/140,000-180,000 live births,Although it has been known in some countries, it has been seldom reported in Ch...INTRODUCTION The tetrasomy 18p （OMIM 614290） is a very rare chromosomal abnormality, with a prevalence of 1/140,000-180,000 live births,Although it has been known in some countries, it has been seldom reported in China. Especially, mosaicism for tetrasomy 18p is even rare. Because of a very limited number of cases, the phenotypic spectrum of mosaic tetrasomy 18p, the complications, and prognosis are unknown. In this study, we reported a patient with mosaic tetrasomy 18p by conventional karyotyping analysis, high-resolution single nucleotide polymorphism （SNP） array, and fluorescence in situ hybridization （FISH）.展开更多
文摘INTRODUCTION The tetrasomy 18p （OMIM 614290） is a very rare chromosomal abnormality, with a prevalence of 1/140,000-180,000 live births,Although it has been known in some countries, it has been seldom reported in China. Especially, mosaicism for tetrasomy 18p is even rare. Because of a very limited number of cases, the phenotypic spectrum of mosaic tetrasomy 18p, the complications, and prognosis are unknown. In this study, we reported a patient with mosaic tetrasomy 18p by conventional karyotyping analysis, high-resolution single nucleotide polymorphism （SNP） array, and fluorescence in situ hybridization （FISH）.
