Article
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.
American journal of medical genetics. Part A - 1 Jun 2022
Sandal Sapna, Mahay Sunita Bijarnia, Dimri Gupta Nandita, Saxena Renu, Lall Meena, Dua Puri Ratna
Abstract excerpt
Trisomy 18 or Edward syndrome is a chromosomal disorder due to the presence of an extra chromosome 18. We describe the phenotype of five fetuses at different gestational ages, each highlighting a different aspect of trisomy 18. The clinical spectrum included increased nuchal translucency, fetal hydrops, congenital malformations of the central nervous system, congenital heart disease, radial ray defects, and...
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