The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24----pter).
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 which would be quoted for isolated anencephaly. This points out the necessity for complete diagnostic studies when a fetus with a neural tube defect is identified. The literature in regard to the 2p duplication phenotype is reviewed. It is possible that the duplication of the distal segment of 2p results in a neural tube defect/kidney anomaly phenotype.
Singer
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N
Genetics and Birth Defects Center, Morristown Memorial Hospital, New Jersey 07960.
Gersen
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S
Warburton
D
D
D000328:Adult; D000757:Anencephaly / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography