Prenatal diagnosis of and midtrimester pathology with karyotype 46,XY,del(4)(q22q26). A case report

A prenatal diagnosis of an interstitial deletion with chromosome 4,46,XY,del(4)(q22q26) was obtained on amniotic fluid cells drawn at 19 weeks' gestation from a 35-year-old gravida. Counseling on the basis of unusual or tenuous data is always difficult, but comparisons with similar deletions in 4q suggested a substantial risk of anomalies. A comparison of the postabortal autopsy findings with those from other reported cases of interstitial deletions of chromosome 4q suggested different pathology with this area of deletion than previously reported for other areas of 4q.