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单词 trisomy 18
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trisomy 18


trisomy 18

n. The condition of having three copies of chromosome 18 that results in a syndrome characterized by severe congenital abnormalities including craniofacial and cardiac defects, intellectual disability, and deformities of the hands and feet. Also called Edwards syndrome.

trisomy 18

Edwards syndrome A chromosome defect due to duplication of chromosome 18 Clinical Mental retardation, hypotonia, polyhydramnios, FTT, small placenta, low-birth-weight, micrognathia, ASD, VSD, PDA, horseshoe kidney, unilateral or double kidney, double ureter, inguinal or umbilical hernia, nail hypoplasia, cleft lip and palate, deformed skull, low-set malformed ears, short sternum, cryptorchidism Incidence 1:3-11,000 Prognosis Death usually by age 2
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