The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24----pter).

@article{Singer1987TheVO,
  title={The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24----pter).},
  author={N. C. Singer and Steven L. Gersen and Dorothy Warburton},
  journal={Prenatal diagnosis},
  year={1987},
  volume={7 8},
  pages={567-71}
}
A family is described in which two anencephalic fetuses were identified in two pregnancies. Autopsy revealed kidney anomalies in both fetuses. Chromosome analysis was performed only on the second fetus, which had a 46,XY,10q+ karyotype. Parental chromosome analysis showed the maternal karyotype to be 46,XX,t(2;10)(p24;q26) thus demonstrating that the fetus was carrying a duplication 2(p24----pter). Recurrence risks for anencephaly based on the cytogenetic abnormality were much higher than those… CONTINUE READING