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- W2769079157 abstract "The most severe trisomies usually result in early pregnancy loss. However, some of these severe trisomies may survive to birth if they are mosaics, in which the condition only affects a portion of the cells in the body. Trisomy 8 mosaicism (Warkany syndrome 2) has a range of clinical phenotypes depending on the cell lines affected. Common findings include agenesis of the corpus callosum, hydrocephalus, ventriculomegaly, abnormal facies, cardiac malformations, and joint contractures. Children have progressive neurodevelopmental delay, although life expectancy may be normal. Trisomy 9 mosaicism is a rare disorder. Characteristic ultrasound findings include microcephaly, craniofacial defects, cardiac abnormalities, and limb findings. Most patients will die within the first year of life, and have severe intellectual and motor deficiencies. Trisomy 16 is the most common autosomal trisomy, although most will result in first-trimester pregnancy loss. All cases that survive to birth are mosaic trisomy 16. Ultrasound findings include cardiac anomalies, pulmonary hypoplasia, genitounrinary anomalies, growth restriction, and two-vessel umbilical cord. The outcome of mosaic trisomy 16 depends on the cell lines affected." @default.
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- W2769079157 date "2018-01-01" @default.
- W2769079157 modified "2023-09-27" @default.
- W2769079157 title "Mosaic Trisomies 8, 9, and 16" @default.
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- W2769079157 doi "https://doi.org/10.1016/b978-0-323-44548-1.00153-4" @default.
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