Article
Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.
Taiwanese journal of obstetrics & gynecology - 1 Dec 2014
Tonni Gabriele, Lituania Mario, Chitayat David, Bonasoni Maria Paola, Keating Sarah, Thompson Megan, Shannon Patrick
Abstract excerpt
OBJECTIVE: Trisomy 9 is a rare chromosomal abnormality usually associated with first-trimester miscarriage; few fetuses survive until the second trimester. We report two new cases of complete trisomy 9 that both present unusual phenotypic associations, and we analyze the genetic pathway involved in this chromosomal abnormality. CASE REPORT: The first fetus investigated showed Dandy-Walker malformation, cleft lip,...
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