Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
متن کاملMosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child
IntroductIon The tetrasomy 18p (OMIM 614290) is a very rare chromosomal abnormality, with a prevalence of 1/140,000–180,000 live births.[1] 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 prog...
متن کاملPrenatal diagnosis of 18p deletion and isochromosome 18q mosaicism in a fetus with a cystic hygroma.
Although, deletion of short arm of chromosome 18 is one of the most frequent autosomal terminal deletions, mosaic form of 18p deletion is infrequently observed. Furthermore, prenatally detected cases of 18p deletion and isochromosome 18q mosaicism are extremely rare. Herein, we present a case of del(18p)/i(18q) mosaicism, prenatally detected after chori- onic villus sampling. A 37-year-old woma...
متن کاملPrenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
متن کاملprenatal diagnosis of mosaic tetrasomy 18p in a case without sonographic abnormalities
small supernumerary marker chromosomes (ssmc) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. on the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
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ژورنال
عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology
سال: 2017
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2017.10.024