Double autosomal trisomy (1q21.2----qter and 14pter----q13) in a female fetus with nuchal oedema.
In this report we describe the prenatal diagnosis of a double autosomal trisomy (1q21.2----qter and 14pter----q13) in a female fetus with nuchal oedema, microphthalmia of the left eye and craniofacial dysmorphism. Cytogenetic examination of the parents revealed an autosomal reciprocal 1q/14q translocation with karyotype: 46,XX,t(1;14)(q21.2;q13) in the mother.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D002883:Chromosomes, Human, Pair 14; D004487:Edema; D005260:Female; D005313:Fetal Death; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy